ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5813T>C (p.Val1938Ala)

gnomAD frequency: 0.00003  dbSNP: rs781196395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002347389 SCV002647809 likely benign Cardiovascular phenotype 2020-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004736159 SCV005345926 uncertain significance TTN-related disorder 2024-08-08 no assertion criteria provided clinical testing The TTN c.5813T>C variant is predicted to result in the amino acid substitution p.Val1938Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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