ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr) (rs1555985482)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516449 SCV000614420 uncertain significance not specified 2017-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000522359 SCV000621937 likely pathogenic not provided 2017-10-26 criteria provided, single submitter clinical testing The D233Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D233Y variant is not observed in large population cohorts (Lek et al., 2016). This 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. This substitution occurs at a position that is conserved across species. A different missense variant at the same position (D233N) has been observed as a de novo variant with confirmed parentage in an individual previously tested at GeneDx with clinical features consistent with a PCDH19-related disorder. Additionally, missense variants in nearby residues (N232S; N234S; P236R) 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, the majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014).

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