ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg)

gnomAD frequency: 0.00005  dbSNP: rs545841306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542229 SCV000643787 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358518 SCV002651303 uncertain significance Cardiovascular phenotype 2018-09-26 criteria provided, single submitter clinical testing The p.K19218R variant (also known as c.57653A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 57653. The lysine at codon 19218 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, arginine is the reference amino acid in other 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 RCV002497146 SCV002814185 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 2021-12-07 criteria provided, single submitter clinical testing

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