ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69140T>C (p.Val23047Ala)

gnomAD frequency: 0.00021  dbSNP: rs368697152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828870 SCV000970572 likely benign not provided 2020-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332734 SCV002627074 uncertain significance Cardiovascular phenotype 2019-07-22 criteria provided, single submitter clinical testing The p.V13982A variant (also known as c.41945T>C), located in coding exon 151 of the TTN gene, results from a T to C substitution at nucleotide position 41945. The valine at codon 13982 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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