ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103609C>T (p.Arg34537Trp)

gnomAD frequency: 0.00001  dbSNP: rs753957126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560170 SCV001782524 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388594 SCV002671763 uncertain significance Cardiovascular phenotype 2019-05-07 criteria provided, single submitter clinical testing The p.R25472W variant (also known as c.76414C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 76414. The arginine at codon 25472 is replaced by tryptophan, an amino acid with dissimilar 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.

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