ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr)

gnomAD frequency: 0.00005  dbSNP: rs781572378
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724846 SCV000332006 uncertain significance not provided 2015-07-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000396588 SCV000616196 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000724846 SCV001771488 likely benign not provided 2019-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365294 SCV002666574 uncertain significance Cardiovascular phenotype 2019-11-01 criteria provided, single submitter clinical testing The p.I23426T variant (also known as c.70277T>C), located in coding exon 176 of the TTN gene, results from a T to C substitution at nucleotide position 70277. The isoleucine at codon 23426 is replaced by threonine, 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.
Revvity Omics, Revvity RCV000724846 SCV003824137 uncertain significance not provided 2020-09-24 criteria provided, single submitter clinical testing

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