ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: 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 RCV002318183 SCV000851422 uncertain significance Inborn genetic diseases 2016-12-21 criteria provided, single submitter clinical testing The p.V332L variant (also known as c.994G>C), located in coding exon 1 of the PCDH19 gene, results from a G to C substitution at nucleotide position 994. The valine at codon 332 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001058753 SCV001223344 uncertain significance Developmental and epileptic encephalopathy, 9 2022-11-15 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PCDH19 protein function. ClinVar contains an entry for this variant (Variation ID: 589998). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 332 of the PCDH19 protein (p.Val332Leu).

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