ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) (rs186554435)

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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 RCV000720690 SCV000851569 uncertain significance History of neurodevelopmental disorder 2017-03-06 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001218532 SCV001390418 uncertain significance Early infantile epileptic encephalopathy 9 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1146 of the PCDH19 protein (p.Ile1146Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs186554435, ExAC 0.05%). This variant has not been reported in the literature in individuals with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 590086). 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"). 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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