ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val)

dbSNP: rs1459520904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218941 SCV001390851 likely pathogenic Developmental and epileptic encephalopathy, 9 2019-08-19 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of PCDH19-related conditions (Invitae). In at least one individual the variant was observed to be de novo. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 296 of the PCDH19 protein (p.Gly296Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.

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