ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg)

gnomAD frequency: 0.00007  dbSNP: rs753036867
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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 RCV000460982 SCV000542872 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-25 criteria provided, single submitter clinical testing
GeneDx RCV004719093 SCV000714589 uncertain significance not provided 2024-07-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002446776 SCV002683278 uncertain significance Cardiovascular phenotype 2019-10-07 criteria provided, single submitter clinical testing The p.K3063R variant (also known as c.9188A>G), located in coding exon 38 of the TTN gene, results from an A to G substitution at nucleotide position 9188. The lysine at codon 3063 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.

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