ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) (rs201764553)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188333 SCV000241945 likely benign not specified 2013-08-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000719968 SCV000850842 likely benign History of neurodevelopmental disorder 2017-05-18 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Invitae RCV001061379 SCV001226120 uncertain significance Early infantile epileptic encephalopathy 9 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 626 of the PCDH19 protein (p.Thr626Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs201764553, ExAC 0.006%). This variant has not been reported in the literature in individuals with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 206298). 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 C15"). 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.
Neurogenetics Research Program, University of Adelaide RCV001199416 SCV001147050 likely benign sporadic NAFE 2019-12-20 no assertion criteria provided research

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