ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58624T>C (p.Ser19542Pro)

gnomAD frequency: 0.00010  dbSNP: rs145198325
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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 RCV002320736 SCV002608979 uncertain significance Cardiovascular phenotype 2020-03-18 criteria provided, single submitter clinical testing The p.S10477P variant (also known as c.31429T>C), located in coding exon 125 of the TTN gene, results from a T to C substitution at nucleotide position 31429. The serine at codon 10477 is replaced by proline, an amino acid with similar properties. This amino acid position is poorly 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.
Revvity Omics, Revvity RCV003138166 SCV003821708 uncertain significance not provided 2021-07-06 criteria provided, single submitter clinical testing

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