ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) (rs1396289338)

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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 RCV000720543 SCV000851422 uncertain significance History of neurodevelopmental disorder 2016-12-21 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001058753 SCV001223344 uncertain significance Early infantile epileptic encephalopathy 9 2019-03-21 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 332 of the PCDH19 protein (p.Val332Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 589998). 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 C25"). 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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