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 RCV000522359 SCV000614420 likely pathogenic not provided 2021-04-08 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations ( This variant has been confirmed to occur de novo in one individual with clinical features associated with this gene. Segregation of this variant with disease is inconclusive due to an asymptomatic carrier in this family. However, reduced penetrance for this gene has been noted in the literature (PMID: 26123493, 22949144, 22633638). Computational tools predict that this variant is damaging.
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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