ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74766G>C (p.Arg24922Ser)

gnomAD frequency: 0.00001  dbSNP: rs372814940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707815 SCV000726283 likely benign not provided 2019-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331069 SCV002633635 uncertain significance Cardiovascular phenotype 2020-01-28 criteria provided, single submitter clinical testing The p.R15857S variant (also known as c.47571G>C), located in coding exon 153 of the TTN gene, results from a G to C substitution at nucleotide position 47571. The arginine at codon 15857 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is poorly 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.
CeGaT Center for Human Genetics Tuebingen RCV001707815 SCV004150283 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing TTN: BP4

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