ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44497G>A (p.Val14833Ile)

gnomAD frequency: 0.00025  dbSNP: rs373168798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615542 SCV000728342 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mayo Clinic Laboratories, Mayo Clinic RCV002261128 SCV002541954 uncertain significance not provided 2021-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413756 SCV002715663 likely benign Cardiovascular phenotype 2020-08-17 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 RCV004735672 SCV005359266 uncertain significance TTN-related disorder 2024-04-09 no assertion criteria provided clinical testing The TTN c.44497G>A variant is predicted to result in the amino acid substitution p.Val14833Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.051% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179490051-C-T). 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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