VCV000013442.42 - ClinVar

NM_000371.4(TTR):c.325G>C (p.Glu109Gln)

Germline

Classification

criteria provided, multiple submitters, no conflicts. Learn more about how ClinVar calculates review status.

Pathogenic

6 out of 8 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000371.4(TTR):c.325G>C (p.Glu109Gln)

Variation ID: 13442 Accession: VCV000013442.42

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 18q12.1 18: 31595244 (GRCh38) [ NCBI UCSC ] 18: 29175207 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Apr 4, 2013	Apr 20, 2025	Sep 3, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000371.4:c.325G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000362.1:p.Glu109Gln	missense
NC_000018.10:g.31595244G>C
NC_000018.9:g.29175207G>C
NG_009490.1:g.8478G>C
LRG_416:g.8478G>C
LRG_416t1:c.325G>C	LRG_416p1:p.Glu109Gln
	P02766:p.Glu109Gln

... more HGVS ... less HGVS

Protein change

E109Q

Other names

E89Q

Canonical SPDI

NC_000018.10:31595243:G:C

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA256829 UniProtKB: P02766#VAR_007585 OMIM: 176300.0026 dbSNP: rs121918082 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
TTR		-	-	GRCh38 GRCh37	404	455

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Amyloidosis, hereditary systemic 1	Pathogenic (4)	criteria provided, multiple submitters, no conflicts	Sep 3, 2024	RCV000014384.29
not provided	Pathogenic (3)	criteria provided, multiple submitters, no conflicts	Oct 15, 2022	RCV000236028.29
Cardiovascular phenotype	Pathogenic (1)	criteria provided, single submitter	Sep 26, 2022	RCV002321480.3

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Jul 18, 2019) C Contributing to aggregate classification	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000293408.9 First in ClinVar: Jul 24, 2016 Last updated: Jul 24, 2016	Comment: Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does … (more) Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23193944, 24073013, 27238058, 27858761, 21692911, 25408161, 28508289, 28635949, 26959691, 24767411, 16530227, 15110620, 9748569, 30328212, 28188196, 29048471, 30981840, 23713495, 12771895, 1301926, 22745357, 31353960, 31371117, 31826067, 31517333, 32740500, 26656838) (less)
Pathogenic (Sep 26, 2022) C Contributing to aggregate classification	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Cardiovascular phenotype Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV002606916.2 First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024	Publications: PubMed (1) PubMed: 25408161 Comment: The p.E109Q pathogenic mutation (also known as c.325G>C), located in coding exon 3 of the TTR gene, results from a G to C substitution at … (more) The p.E109Q pathogenic mutation (also known as c.325G>C), located in coding exon 3 of the TTR gene, results from a G to C substitution at nucleotide position 325. The glutamic acid at codon 109 is replaced by glutamine, an amino acid with highly similar properties. This alteration, which is also known as p.E89Q, was first described in an Italian family with hereditary transthyretin (TTR)-related amyloidosis (Almeida MR et al. Hum Mutat. 1992;1(3):211-5). This alteration is the most common TTR mutation in the Italian population and is associated with a mixed phenotype (Coelho T et al. Curr Med Res Opin. 2013;29(1):63-76; Rapezzi C. et al. Eur Heart J. 2013;34(7):520-8, Castaño A, et al. Heart Fail Rev 2015 Mar; 20(2):163-78). In addition, another mutation at the same position, p.E109K, has also been described in individuals with hereditary TTR-related amyloidosis (Barreiros AP, et al. Liver Transpl. 2010;16(3):314-23), Rapezzi C, et al. Eur. Heart J. 2013;34(7):520-8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, this alteration is predicted to be deleterious by BayesDel in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Pathogenic (Sep 03, 2024) C Contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Amyloidosis, hereditary systemic 1 Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001392545.6 First in ClinVar: Jul 16, 2020 Last updated: Feb 25, 2025	Publications: PubMed (6) PubMed: 1301926‚ 28635949‚ 10842705‚ 20209591‚ 25644864‚ 28911993 Comment: This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 109 of the TTR protein … (more) This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 109 of the TTR protein (p.Glu109Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) and hATTR amyloidosis (PMID: 1301926, 28635949). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Glu89Gln (E89Q). ClinVar contains an entry for this variant (Variation ID: 13442). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt TTR protein function with a positive predictive value of 95%. This variant disrupts the p.Glu109 amino acid residue in TTR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10842705, 20209591, 25644864, 28911993). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Jul 13, 2017) C Contributing to aggregate classification	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) Method: clinical testing	Amyloidosis, hereditary systemic 1 Affected status: unknown Allele origin: germline	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV000696627.1 First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015	Publications: PubMed (8) PubMed: 9748569‚ 24767411‚ 22747647‚ 24073013‚ 16530227‚ 15110620‚ 27858761‚ 27238058 Comment: Variant summary: The TTR c.325G>C (p.Glu109Gln) variant involves the alteration of a conserved nucleotide, resulting in a missense change within the transthyretin/hydroxyisourate hydrolase domain (InterPro). … (more) Variant summary: The TTR c.325G>C (p.Glu109Gln) variant involves the alteration of a conserved nucleotide, resulting in a missense change within the transthyretin/hydroxyisourate hydrolase domain (InterPro). 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent from the large control database ExAC (0/121328 control chromosomes). The variant has been identified in numerous heterozygous patients and families with transthyretin amyloidosis (e.g., Wixner_OJRD_2014; Nardo_TP_2004; Durmus-Tekce_Neuromusc Dis_2016). Overlapping and nearby disease-associated mutations such as E109K, H108R, H110N and H110D suggest the residue and the motif are critical for proper protein function. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
Pathogenic (Oct 15, 2022) C Contributing to aggregate classification	criteria provided, single submitter (Athena Diagnostics Criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: unknown	Athena Diagnostics Accession: SCV004229421.1 First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024	Publications: PubMed (22) PubMed: 1301926‚ 27238058‚ 27858761‚ 24767411‚ 24073013‚ 16530227‚ 15110620‚ 9748569‚ 21692911‚ 34585077‚ 28508289‚ 32395865‚ 32740500‚ 23713495‚ 31353960‚ 31371117‚ 31517333‚ 31826067‚ 22745357‚ 26656838‚ 30981840‚ 7655883 Comment: This variant has been identified in multiple unrelated individuals with clinical features associated with hereditary transthyretin-related amyloidosis and familial carpal tunnel syndrome and segregates with … (more) This variant has been identified in multiple unrelated individuals with clinical features associated with hereditary transthyretin-related amyloidosis and familial carpal tunnel syndrome and segregates with disease in multiple families. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). In some published literature, this variant is referred to as p.Glu89Gln. (less)
Pathogenic (May 01, 2018) C Contributing to aggregate classification	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV001245842.29 First in ClinVar: May 12, 2020 Last updated: Apr 20, 2025	Number of individuals with the variant: 1
Likely pathogenic (Feb 02, 2022) N Not contributing to aggregate classification	no assertion criteria provided (ACMG Guidelines, 2015) Method: clinical testing	Amyloidosis, hereditary systemic 1 Affected status: yes Allele origin: germline	Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals Accession: SCV002754560.1 First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022
Pathogenic (Jan 01, 1992) N Not contributing to aggregate classification	no assertion criteria provided Method: literature only	AMYLOIDOSIS, HEREDITARY SYSTEMIC 1 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000034633.2 First in ClinVar: Apr 04, 2013 Last updated: May 26, 2024	Publications: PubMed (1) PubMed: 1301926 Salvi, F., Ferlini, A., Plasmati, (more...) Salvi, F., Ferlini, A., Plasmati, R., Rubboli, G., Michelucci, R., Forti, A., Saraiva, M. J. M., Costa, P. P., Altland, K., Tassinari, C. A. Familial amyloidotic polyneuropathy in Italy. Arquivos Med. 3: 19-24, 1990. Comment on evidence: In a Sicilian family, Almeida et al. (1992) identified a glu89-to-gln substitution in transthyretin (E89Q) as the basis of amyloidosis presenting as neuropathy and cardiomyopathy … (more) In a Sicilian family, Almeida et al. (1992) identified a glu89-to-gln substitution in transthyretin (E89Q) as the basis of amyloidosis presenting as neuropathy and cardiomyopathy (AMYLD1; 105210). In this and another Sicilian family (see 176300.0025), the TTR variants had been detected by isoelectric focusing (IEF); one was a neutral TTR variant and the other (E89Q) was basic. Three patients in the family with the E89Q mutation presented with carpal tunnel syndrome as the initial manifestation. Many years later, it was followed by polyneuropathy and cardiomyopathy responsible in 1 patient for intractable heart failure and death (Salvi et al., 1990). (less)

Comment:

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23193944, 24073013, 27238058, 27858761, 21692911, 25408161, 28508289, 28635949, 26959691, 24767411, 16530227, 15110620, 9748569, 30328212, 28188196, 29048471, 30981840, 23713495, 12771895, 1301926, 22745357, 31353960, 31371117, 31826067, 31517333, 32740500, 26656838)

Comment:

The p.E109Q pathogenic mutation (also known as c.325G>C), located in coding exon 3 of the TTR gene, results from a G to C substitution at nucleotide position 325. The glutamic acid at codon 109 is replaced by glutamine, an amino acid with highly similar properties. This alteration, which is also known as p.E89Q, was first described in an Italian family with hereditary transthyretin (TTR)-related amyloidosis (Almeida MR et al. Hum Mutat. 1992;1(3):211-5). This alteration is the most common TTR mutation in the Italian population and is associated with a mixed phenotype (Coelho T et al. Curr Med Res Opin. 2013;29(1):63-76; Rapezzi C. et al. Eur Heart J. 2013;34(7):520-8, Castaño A, et al. Heart Fail Rev 2015 Mar; 20(2):163-78). In addition, another mutation at the same position, p.E109K, has also been described in individuals with hereditary TTR-related amyloidosis (Barreiros AP, et al. Liver Transpl. 2010;16(3):314-23), Rapezzi C, et al. Eur. Heart J. 2013;34(7):520-8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, this alteration is predicted to be deleterious by BayesDel in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

Comment:

This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 109 of the TTR protein (p.Glu109Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) and hATTR amyloidosis (PMID: 1301926, 28635949). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Glu89Gln (E89Q). ClinVar contains an entry for this variant (Variation ID: 13442). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt TTR protein function with a positive predictive value of 95%. This variant disrupts the p.Glu109 amino acid residue in TTR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10842705, 20209591, 25644864, 28911993). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

Comment:

Variant summary: The TTR c.325G>C (p.Glu109Gln) variant involves the alteration of a conserved nucleotide, resulting in a missense change within the transthyretin/hydroxyisourate hydrolase domain (InterPro). 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent from the large control database ExAC (0/121328 control chromosomes). The variant has been identified in numerous heterozygous patients and families with transthyretin amyloidosis (e.g., Wixner_OJRD_2014; Nardo_TP_2004; Durmus-Tekce_Neuromusc Dis_2016). Overlapping and nearby disease-associated mutations such as E109K, H108R, H110N and H110D suggest the residue and the motif are critical for proper protein function. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

Comment:

This variant has been identified in multiple unrelated individuals with clinical features associated with hereditary transthyretin-related amyloidosis and familial carpal tunnel syndrome and segregates with disease in multiple families. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). In some published literature, this variant is referred to as p.Glu89Gln.

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family.	Erdogan C	Northern clinics of Istanbul	2021	PMID: 34585077
Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutation.	Gospodinova M	Journal of cardiovascular medicine (Hagerstown, Md.)	2020	PMID: 32740500
Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: Neurological and cardiological features.	Gentile L	Journal of the peripheral nervous system : JPNS	2020	PMID: 32395865
Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy.	Maurizi N	International journal of cardiology	2020	PMID: 31371117
Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.	Nakov R	Journal of gastrointestinal and liver diseases : JGLD	2019	PMID: 31826067
Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report.	Nakov R	Journal of gastrointestinal and liver diseases : JGLD	2019	PMID: 31517333
Founder effect of the Glu89Gln TTR mutation in the Bulgarian population.	Kirov A	Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis	2019	PMID: 31353960
Monoallelic expression of the TTR gene as a contributor to the age at onset and penetrance of TTR-related amyloidosis.	Yordanova I	Gene	2019	PMID: 30981840
Ocular Manifestations of Familial Transthyretin Amyloidosis.	Reynolds MM	American journal of ophthalmology	2017	PMID: 28911993
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.	Iorio A	European journal of human genetics : EJHG	2017	PMID: 28635949
Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy.	Federico C	Human genetics	2017	PMID: 28508289
Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.	Durmuş-Tekçe H	Neuromuscular disorders : NMD	2016	PMID: 27238058
Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry.	Suhr OB	Transplantation	2016	PMID: 26656838
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area.	Mazzeo A	Journal of neuromuscular diseases	2015	PMID: 27858761
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.	Jang MA	Annals of human genetics	2015	PMID: 25644864
Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs.	Castaño A	Heart failure reviews	2015	PMID: 25408161
THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease.	Wixner J	Orphanet journal of rare diseases	2014	PMID: 24767411
Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center.	Givens RC	Aging health	2013	PMID: 24073013
Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis.	Ihse E	Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis	2013	PMID: 23713495
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.	Rapezzi C	European heart journal	2013	PMID: 22745357
Diflunisal for ATTR cardiac amyloidosis.	Castaño A	Congestive heart failure (Greenwich, Conn.)	2012	PMID: 22747647
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.	Cappellari M	Journal of the peripheral nervous system : JPNS	2011	PMID: 21692911
Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience.	Barreiros AP	Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society	2010	PMID: 20209591
Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study.	Mazzeo A	Journal of the neurological sciences	2006	PMID: 16530227
Combined heart and liver transplantation in four adults with familial amyloidosis: experience of a single center.	Nardo B	Transplantation proceedings	2004	PMID: 15110620
A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy.	Nakamura M	Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis	2000	PMID: 10842705
A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing.	Connors LH	Biochimica et biophysica acta	1998	PMID: 9748569
Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.	Reilly MM	Brain : a journal of neurology	1995	PMID: 7655883
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.	Almeida MR	Human mutation	1992	PMID: 1301926
Salvi, F., Ferlini, A., Plasmati, R., Rubboli, G., Michelucci, R., Forti, A., Saraiva, M. J. M., Costa, P. P., Altland, K., Tassinari, C. A. Familial amyloidotic polyneuropathy in Italy. Arquivos Med. 3: 19-24, 1990.	-	-	-	-
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Record last updated Apr 20, 2025

ClinVar Genomic variation as it relates to human health

NM_000371.4(TTR):c.325G>C (p.Glu109Gln)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs121918082 ...