ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.701A>G (p.Asn234Ser) (rs1555985475)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523297 SCV000617393 likely pathogenic not provided 2017-09-05 criteria provided, single submitter clinical testing The N234S variant has been reported previously as a de novo variant in an individual with infantile epileptic encephalopathy (Depienne et al., 2012). The N234S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species, and missense variants in nearby residues (D230N, N232S, P236S/L) have been reported in the Human Gene Mutation Database in association with PCDH19-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the N234S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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