ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val)

gnomAD frequency: 0.00004  dbSNP: rs371109150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415986 SCV000493316 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV001047901 SCV001211885 uncertain significance Developmental and epileptic encephalopathy, 9 2022-02-04 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. ClinVar contains an entry for this variant (Variation ID: 374533). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. This variant is present in population databases (rs371109150, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 992 of the PCDH19 protein (p.Ala992Val).

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