ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu) (rs759830423)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521452 SCV000617246 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing The S406L variant in the RYR2 gene has been reported previously in an individual with familial catecholaminergic polymorphic ventricular tachycardia (CPVT); however, familial segregation information was not included (Jung et al., 2012). The S406L variant is observed in 2/18854 (0.012%) alleles from individuals of East Asian background and 5/276920 total alleles in large population cohorts (Lek et al., 2016). The S406L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret S406L as a variant of uncertain significance.

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