ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74582C>T (p.Ala24861Val)

gnomAD frequency: 0.00004  dbSNP: rs149232991
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596674 SCV000701151 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341513 SCV002639131 uncertain significance Cardiovascular phenotype 2020-03-03 criteria provided, single submitter clinical testing The p.A15796V variant (also known as c.47387C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 47387. The alanine at codon 15796 is replaced by valine, an amino acid with similar properties. This amino acid position is 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 RCV000596674 SCV003827267 uncertain significance not provided 2019-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000596674 SCV004024014 uncertain significance not provided 2023-02-03 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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