ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65144G>A (p.Arg21715Gln)

dbSNP: rs368450785
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293205 SCV001434203 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Ambry Genetics RCV002354910 SCV002620115 uncertain significance Cardiovascular phenotype 2019-05-29 criteria provided, single submitter clinical testing The p.R12650Q variant (also known as c.37949G>A), located in coding exon 138 of the TTN gene, results from a G to A substitution at nucleotide position 37949. The arginine at codon 12650 is replaced by glutamine, an amino acid with highly similar 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.
Revvity Omics, Revvity RCV003141918 SCV003821704 uncertain significance not provided 2021-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544998 SCV004770331 uncertain significance TTN-related disorder 2024-01-26 no assertion criteria provided clinical testing The TTN c.65144G>A variant is predicted to result in the amino acid substitution p.Arg21715Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% 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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