ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4882A>G (p.Met1628Val) (rs757286828)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182871 SCV000235259 uncertain significance not provided 2014-10-23 criteria provided, single submitter clinical testing p.Met1628Val (ATG>GTG): c.4882 A>G in exon 36 of the RYR2 gene (NM_001035.2). The Met1628Val variant in the RYR2 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Although Met1628Val results in a conservative amino acid substitution of one non-polar amino acid with another, the Met1628 position is conserved in mammals and chicken. The NHLBI ESP Exome Variant Server reports Met1628Val was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in surrounding codons have been reported in association with CPVT, indicating this region of the protein may be tolerant of change. In summary, with the clinical and molecular information available at this time, we cannot unequivocally determine if the Met1628Val variant in the RYR2 gene is a disease-causing mutation or a rare benign variant. The variant is found in CPVT, POSTMORTEM panel(s).

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