ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809498 SCV000949650 uncertain significance Early infantile epileptic encephalopathy 9 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 938 of the PCDH19 protein (p.Ser938Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs772106217, ExAC 0.002%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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