ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101423C>G (p.Ser33808Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002384997 SCV002668498 uncertain significance Cardiovascular phenotype 2020-04-30 criteria provided, single submitter clinical testing The p.S24743C variant (also known as c.74228C>G), located in coding exon 185 of the TTN gene, results from a C to G substitution at nucleotide position 74228. The serine at codon 24743 is replaced by cysteine, an amino acid with dissimilar 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.

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