ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.785C>A (p.Ala262Asp)

dbSNP: rs1555985448
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657888 SCV000779651 uncertain significance not provided 2018-05-04 criteria provided, single submitter clinical testing The A262D variant in the PCDH19 gene has been reported previously in a female with infantile epileptic encephalopathy (Depienne et al., 2012). The A262D variant is not observed in large population cohorts (Lek et al., 2016). The A262D 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 A262D as a variant of uncertain significance

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