ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1246T>C (p.Cys416Arg) (rs1555145510)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000499006 SCV000590281 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PKP2 gene. The C416R variant has notbeen published as pathogenic or been reported as benign to our knowledge. This variant is not observedin large population cohorts (Lek et al., 2016). The C416R variant is a non-conservative amino acidsubstitution, which is likely to impact secondary protein structure as these residues differ in polarity,charge, size and/or other properties. Furthermore, in-silico analyses, including protein predictors andevolutionary conservation, support a deleterious effect. Nevertheless, this variant lacks observation ina significant number of affected individuals, segregation data, and functional evidence, which wouldfurther clarify its pathogenicity.

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