ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr)

gnomAD frequency: 0.00001  dbSNP: rs755904886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039975 SCV001203527 uncertain significance Developmental and epileptic encephalopathy, 9 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 347 of the PCDH19 protein (p.Asn347Thr). This variant is present in population databases (rs755904886, gnomAD 0.008%). 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: 838428). 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 with a negative predictive value of 95%. 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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