ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser)

gnomAD frequency: 0.00002  dbSNP: rs781315243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061999 SCV001226768 uncertain significance Developmental and epileptic encephalopathy, 9 2023-02-10 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 839 of the PCDH19 protein (p.Asn839Ser). This variant is present in population databases (rs781315243, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. ClinVar contains an entry for this variant (Variation ID: 856523). 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. 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.
PreventionGenetics, part of Exact Sciences RCV003393832 SCV004111487 uncertain significance PCDH19-related condition 2023-06-13 criteria provided, single submitter clinical testing The PCDH19 c.2516A>G variant is predicted to result in the amino acid substitution p.Asn839Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0012% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-99657622-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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