ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10162C>T (p.Arg3388Trp)

gnomAD frequency: 0.00001  dbSNP: rs758680640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837895 SCV000979757 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002381893 SCV002695099 uncertain significance Cardiovascular phenotype 2020-01-14 criteria provided, single submitter clinical testing The p.R3342W variant (also known as c.10024C>T), located in coding exon 42 of the TTN gene, results from a C to T substitution at nucleotide position 10024. The arginine at codon 3342 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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