ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79685G>A (p.Arg26562Gln)

gnomAD frequency: 0.00003  dbSNP: rs538960023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828352 SCV000970038 likely benign not provided 2018-06-08 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 RCV002336734 SCV002645393 uncertain significance Cardiovascular phenotype 2019-02-08 criteria provided, single submitter clinical testing The p.R17497Q variant (also known as c.52490G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 52490. The arginine at codon 17497 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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.
PreventionGenetics, part of Exact Sciences RCV004735824 SCV005356377 uncertain significance TTN-related disorder 2024-07-29 no assertion criteria provided clinical testing The TTN c.79685G>A variant is predicted to result in the amino acid substitution p.Arg26562Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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