ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61220T>C (p.Val20407Ala)

gnomAD frequency: 0.00001  dbSNP: rs761797946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799213 SCV002042577 uncertain significance Cardiomyopathy 2019-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458612 SCV002612653 uncertain significance Cardiovascular phenotype 2020-09-01 criteria provided, single submitter clinical testing The p.V11342A variant (also known as c.34025T>C), located in coding exon 131 of the TTN gene, results from a T to C substitution at nucleotide position 34025. The valine at codon 11342 is replaced by alanine, an amino acid with 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.
GeneDx RCV005057622 SCV005689816 uncertain significance not provided 2024-08-09 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

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