ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48023G>A (p.Arg16008Gln)

gnomAD frequency: 0.00003  dbSNP: rs771224957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532400 SCV000643248 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420455 SCV002726834 uncertain significance Cardiovascular phenotype 2019-11-21 criteria provided, single submitter clinical testing The p.R6943Q variant (also known as c.20828G>A), located in coding exon 83 of the TTN gene, results from a G to A substitution at nucleotide position 20828. The arginine at codon 6943 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.

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