ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met)

dbSNP: rs1928262563
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236522 SCV001409249 uncertain significance Developmental and epileptic encephalopathy, 9 2020-01-30 criteria provided, single submitter clinical testing 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. 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 C0"). This variant has not been reported in the literature in individuals with PCDH19-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with methionine at codon 729 of the PCDH19 protein (p.Ile729Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine.

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