ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88831G>A (p.Val29611Met)

dbSNP: rs79299277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002251337 SCV000237710 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002354517 SCV002654518 uncertain significance Cardiovascular phenotype 2019-12-16 criteria provided, single submitter clinical testing The p.V20546M variant (also known as c.61636G>A), located in coding exon 159 of the TTN gene, results from a G to A substitution at nucleotide position 61636. The valine at codon 20546 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV002251337 SCV003819695 uncertain significance not provided 2021-02-04 criteria provided, single submitter clinical testing

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