ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.268G>C (p.Asp90His)

dbSNP: rs1555985780
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529603 SCV000640264 likely pathogenic Developmental and epileptic encephalopathy, 9 2018-06-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 90 of the PCDH19 protein (p.Asp90His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with clinical features consistent with PCDH19-related disorder (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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