NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) AND not provided

Germline classification:: Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:: Oct 18, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000725050.11

Allele description [Variation Report for NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)]

NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)

Genes:

LOC126806427:BRD4-independent group 4 enhancer GRCh37_chr2:179485777-179486976 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)

Other names:

p.I13430T:ATT>ACT

HGVS:

NC_000002.12:g.178621612A>G
NG_011618.3:g.214191T>C
NG_051363.1:g.103786A>G
NM_001256850.1:c.40289T>C
NM_001267550.2:c.45212T>CMANE SELECT
NM_003319.4:c.18017T>C
NM_133378.4:c.37508T>C
NM_133432.3:c.18392T>C
NM_133437.4:c.18593T>C
NP_001243779.1:p.Ile13430Thr
NP_001254479.2:p.Ile15071Thr
NP_003310.4:p.Ile6006Thr
NP_596869.4:p.Ile12503Thr
NP_597676.3:p.Ile6131Thr
NP_597681.4:p.Ile6198Thr
LRG_391:g.214191T>C
NC_000002.11:g.179486339A>G
NM_003319.4:c.18017T>C
Q8WZ42:p.Ile13430Thr

Protein change:

I12503T

Links:

UniProtKB: Q8WZ42#VAR_040151; dbSNP: rs184078045

Molecular consequence:

NM_001256850.1:c.40289T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.45212T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.18017T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.37508T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.18392T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.18593T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000237185	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jan 14, 2021)	germline	clinical testing	Citation Link,
SCV000333544	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Aug 4, 2015)	germline	clinical testing	Citation Link,
SCV006319198	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 18, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000237185

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jan 14, 2021)

germline

clinical testing

Citation Link,

SCV000333544

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Aug 4, 2015)

germline

clinical testing

Citation Link,

SCV006319198

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 18, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 GeneDx, SCV000237185.7

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000333544.4

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

From Revvity Omics, Revvity, SCV006319198.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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