ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln)

gnomAD frequency: 0.00006  dbSNP: rs369835255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458401 SCV000542365 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619900 SCV000735985 uncertain significance Cardiovascular phenotype 2019-10-18 criteria provided, single submitter clinical testing The p.R23012Q variant (also known as c.69035G>A), located in coding exon 173 of the TTN gene, results from a G to A substitution at nucleotide position 69035. The arginine at codon 23012 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.
GeneDx RCV001555537 SCV001776975 likely benign not provided 2020-07-10 criteria provided, single submitter clinical testing

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