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NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) AND TTN-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004537560.2

Allele description [Variation Report for NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)]

NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
Other names:
p.V29877A:GTC>GCC
HGVS:
  • NC_000002.12:g.178546875A>G
  • NG_011618.3:g.288928T>C
  • NG_051363.1:g.29049A>G
  • NM_001256850.1:c.89630T>C
  • NM_001267550.2:c.94553T>CMANE SELECT
  • NM_003319.4:c.67358T>C
  • NM_133378.4:c.86849T>C
  • NM_133432.3:c.67733T>C
  • NM_133437.4:c.67934T>C
  • NP_001243779.1:p.Val29877Ala
  • NP_001254479.2:p.Val31518Ala
  • NP_003310.4:p.Val22453Ala
  • NP_596869.4:p.Val28950Ala
  • NP_597676.3:p.Val22578Ala
  • NP_597681.4:p.Val22645Ala
  • LRG_391:g.288928T>C
  • NC_000002.11:g.179411602A>G
  • NM_001267550.1:c.94553T>C
Protein change:
V22453A
Links:
dbSNP: rs377016580
NCBI 1000 Genomes Browser:
rs377016580
Molecular consequence:
  • NM_001256850.1:c.89630T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.94553T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.67358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.86849T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.67733T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.67934T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TTN-related disorder
Synonyms:
TTN-related condition; TTN-Related Disorders; TTN-related disease
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004725982PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 22, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004725982.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The TTN c.94553T>C variant is predicted to result in the amino acid substitution p.Val31518Ala. This variant has been reported in compound heterozygous state in individuals with dilated cardiomyopathy, however no information was provided to establish its pathogenicity (Supplementary file 2 in case 1463, van Lint et al. 2019. PubMed ID: 30847666; Minoche et al. 2018. PubMed ID: 29961767). This variant is reported in 0.030% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024