ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2854G>C (p.Val952Leu)

gnomAD frequency: 0.00004  dbSNP: rs373848402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608868 SCV000725427 likely benign not specified 2017-11-27 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 RCV002431798 SCV002744305 uncertain significance Cardiovascular phenotype 2020-06-22 criteria provided, single submitter clinical testing The p.V906L variant (also known as c.2716G>C), located in coding exon 16 of the TTN gene, results from a G to C substitution at nucleotide position 2716. The valine at codon 906 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not 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.
Revvity Omics, Revvity RCV003139920 SCV003818509 uncertain significance not provided 2022-04-13 criteria provided, single submitter clinical testing

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