ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile)

gnomAD frequency: 0.00012  dbSNP: rs371286595
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593342 SCV000709072 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000593342 SCV000984642 likely benign not provided 2018-04-23 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.
Ambry Genetics RCV002456312 SCV002617520 likely benign Cardiovascular phenotype 2020-08-31 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.
Revvity Omics, Revvity RCV000593342 SCV003819109 uncertain significance not provided 2019-04-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530722 SCV004118519 uncertain significance TTN-related disorder 2023-04-05 criteria provided, single submitter clinical testing The TTN c.63775G>A variant is predicted to result in the amino acid substitution p.Val21259Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.042% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179452261-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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