ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg)

gnomAD frequency: 0.00001  dbSNP: rs937111656
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642919 SCV000764606 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000828354 SCV000970040 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002343288 SCV002653681 uncertain significance Cardiovascular phenotype 2018-03-01 criteria provided, single submitter clinical testing The p.K18418R variant (also known as c.55253A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 55253. The lysine at codon 18418 is replaced by arginine, 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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