ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln)

gnomAD frequency: 0.00002  dbSNP: rs767993624
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714073 SCV000844740 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352235 SCV002619745 uncertain significance Cardiovascular phenotype 2019-11-08 criteria provided, single submitter clinical testing The p.R13434Q variant (also known as c.40301G>A), located in coding exon 146 of the TTN gene, results from a G to A substitution at nucleotide position 40301. The arginine at codon 13434 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV002493269 SCV002780009 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-07-16 criteria provided, single submitter clinical testing

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