ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1232C>G (p.Thr411Ser)

gnomAD frequency: 0.00003  dbSNP: rs886042193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000281376 SCV000332442 uncertain significance not provided 2015-07-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365296 SCV002665562 uncertain significance Cardiovascular phenotype 2019-06-19 criteria provided, single submitter clinical testing The p.T411S variant (also known as c.1232C>G), located in coding exon 6 of the TTN gene, results from a C to G substitution at nucleotide position 1232. The threonine at codon 411 is replaced by serine, 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 Omics RCV000281376 SCV003822316 uncertain significance not provided 2022-06-18 criteria provided, single submitter clinical testing

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