ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8374G>A (p.Val2792Met)

gnomAD frequency: 0.00002  dbSNP: rs79645147
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001797208 SCV002038610 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function
Ambry Genetics RCV002406888 SCV002676143 uncertain significance Cardiovascular phenotype 2019-12-12 criteria provided, single submitter clinical testing The p.V2746M variant (also known as c.8236G>A), located in coding exon 33 of the TTN gene, results from a G to A substitution at nucleotide position 8236. The valine at codon 2746 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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