ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val)

gnomAD frequency: 0.00003  dbSNP: rs762136167
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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) RCV000366721 SCV000341185 uncertain significance not provided 2016-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000366721 SCV001777901 likely benign not provided 2019-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411164 SCV002673032 uncertain significance Cardiovascular phenotype 2019-09-06 criteria provided, single submitter clinical testing The p.A25996V variant (also known as c.77987C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 77987. The alanine at codon 25996 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other 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 RCV000366721 SCV003826538 uncertain significance not provided 2020-02-25 criteria provided, single submitter clinical testing

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