ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100859G>C (p.Ser33620Thr)

gnomAD frequency: 0.00002  dbSNP: rs369261182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518393 SCV000615959 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383999 SCV002670682 uncertain significance Cardiovascular phenotype 2019-12-20 criteria provided, single submitter clinical testing The p.S24555T variant (also known as c.73664G>C), located in coding exon 185 of the TTN gene, results from a G to C substitution at nucleotide position 73664. The serine at codon 24555 is replaced by threonine, 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 RCV003139721 SCV003822937 uncertain significance not provided 2020-02-10 criteria provided, single submitter clinical testing

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