ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.661C>T (p.Arg221Cys) (rs182464375)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183938 SCV000236430 uncertain significance not provided 2013-09-24 criteria provided, single submitter clinical testing p.Arg221Cys (CGT>TGT): c.661 C>T in exon 8 of the TMEM43 gene (NM_024334.2). The R221C variant in the TMEM43 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. R221C results in a non-conservative amino acid substitution of a positively charged Arginine residue with a neutral, polar Cysteine residue at a position that is not conserved through evolution. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. The R221C variant was observed in 2/120 (1.7%) alleles of individuals with Colombian ethnic background identified in the 1000 genomes project (Kersey P et al., 2010). With the clinical and molecular information available at this time, we cannot definitively determine if R221C in TMEM43 is a disease-causing mutation or rare benign variant. The variant is found in ARVC panel(s).

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