ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala)

dbSNP: rs1555985491
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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 RCV000641127 SCV000762749 uncertain significance Developmental and epileptic encephalopathy, 9 2017-10-31 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 231 of the PCDH19 protein (p.Ser231Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PCDH19-related disease. 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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