ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu)

dbSNP: rs774791898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372948 SCV001569644 uncertain significance Developmental and epileptic encephalopathy, 9 2020-10-09 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PCDH19 protein function. This variant has not been reported in the literature in individuals with PCDH19-related conditions. This variant is present in population databases (rs774791898, ExAC 0.01%). This sequence change replaces valine with leucine at codon 1081 of the PCDH19 protein (p.Val1081Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine.
GeneDx RCV001762650 SCV001990616 uncertain significance not provided 2019-04-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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