ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97373C>T (p.Thr32458Met)

gnomAD frequency: 0.00001  dbSNP: rs749501290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247027 SCV000318575 uncertain significance Cardiovascular phenotype 2019-09-19 criteria provided, single submitter clinical testing The p.T29890M variant (also known as c.89669C>T), located in coding exon 297 of the TTN gene, results from a C to T substitution at nucleotide position 89669. The threonine at codon 29890 is replaced by methionine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, methionine 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 RCV003137857 SCV003825988 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing

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