NM_000169.3(GLA):c.926C>T (p.Ala309Val) AND Fabry disease

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Jul 15, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000209571.6

Allele description [Variation Report for NM_000169.3(GLA):c.926C>T (p.Ala309Val)]

NM_000169.3(GLA):c.926C>T (p.Ala309Val)

Genes:

RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_000169.3(GLA):c.926C>T (p.Ala309Val)

HGVS:

NC_000023.11:g.101398443G>A
NG_007119.1:g.14521C>T
NM_000169.3:c.926C>TMANE SELECT
NM_001199973.2:c.300+2986G>A
NM_001199974.2:c.177+6621G>A
NP_000160.1:p.Ala309Val
NP_000160.1:p.Ala309Val
LRG_672t1:c.926C>T
LRG_672:g.14521C>T
LRG_672p1:p.Ala309Val
NC_000023.10:g.100653431G>A
NM_000169.2:c.926C>T
NR_164783.1:n.1005C>T
P06280:p.Ala309Val
p.A309V

Protein change:

A309V

Links:

UniProtKB: P06280#VAR_077406; dbSNP: rs869312155

NCBI 1000 Genomes Browser:

rs869312155

Molecular consequence:

NM_001199973.2:c.300+2986G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001199974.2:c.177+6621G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000169.3:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_164783.1:n.1005C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

effect on protein activity [Variation Ontology: 0053]

Condition(s)

Name:: Fabry disease
Synonyms:: Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010526; MedGen: C0002986; Orphanet: 324; OMIM: 301500; Human Phenotype Ontology: HP:0001071

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000246079	Albrecht-Kossel-Institute, Medical University Rostock	no assertion criteria provided	Uncertain significance (Jan 1, 2014)	inherited	research	PubMed (1) [See all records that cite this PMID]
SCV002054349	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 15, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002081335	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 15, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000246079

Albrecht-Kossel-Institute, Medical University Rostock

no assertion criteria provided

Uncertain significance
(Jan 1, 2014)

inherited

research

PubMed (1)
[See all records that cite this PMID]

SCV002054349

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 15, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002081335

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 15, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	inherited	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A.

Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910. Epub 2015 Oct 27.

PubMed [citation]

PMID:: 26415523

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Albrecht-Kossel-Institute, Medical University Rostock, SCV000246079.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV002054349.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Natera, Inc., SCV002081335.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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