ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) (rs794728813)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182857 SCV000235245 pathogenic not provided 2011-08-15 criteria provided, single submitter clinical testing This mutation is denoted Leu62Phe (aka L62F) at the protein level and c.184 C>T at the cDNA level. A C>T nucleotide substitution was identified in exon 3 of the RYR2 gene, resulting in replacement of the normal Leucine codon (CTC) with a Phenylalanine codon (TTC) at amino acid position 62 in the cardiac ryanodine receptor. The Leu62Phe mutation in the RYR2 gene has been reported in one individual diagnosed with CPVT and this mutation was absent from 400 control alleles (Medeiros-Domingo, et al. 2009). In addition, the Leu62Phe mutation was not detected in up to 400 alleles from control individuals of Caucasian and African American ancestry tested at GeneDx, indicating it is not a common benign variant in this population. In addition, the Leu62Phe mutation is located near the N-terminal mutation hot spot in the RYR2 gene (Medeiros-Domingo, et al. 2009). The variant is found in CPVT panel(s).

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