ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) (rs774986147)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720444 SCV000851321 uncertain significance History of neurodevelopmental disorder 2016-10-19 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001216154 SCV001387933 uncertain significance Early infantile epileptic encephalopathy 9 2019-06-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1053 of the PCDH19 protein (p.Arg1053Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs774986147, ExAC 0.002%). This variant has not been reported in the literature in individuals with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 589955). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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