ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) (rs1569314809)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698541 SCV000827209 likely pathogenic Early infantile epileptic encephalopathy 9 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 448 of the PCDH19 protein (p.Asp448Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with focal epilepsy and minor speech delay (Invitae). 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. 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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