ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His)

gnomAD frequency: 0.00001  dbSNP: rs373996202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995869 SCV002272836 uncertain significance Developmental and epileptic encephalopathy, 9 2021-04-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 881 of the PCDH19 protein (p.Asn881His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is present in population databases (rs373996202, ExAC 0.03%). This variant has not been reported in the literature in individuals with PCDH19-related conditions. 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 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.
Revvity Omics, Revvity RCV001995869 SCV003814743 uncertain significance Developmental and epileptic encephalopathy, 9 2022-05-10 criteria provided, single submitter clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV004571891 SCV004174934 uncertain significance not provided 2021-06-16 no assertion criteria provided clinical testing

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