ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2348A>G (p.Asp783Gly)

gnomAD frequency: 0.00001  dbSNP: rs765443935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216819 SCV001388631 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 783 of the PCDH15 protein (p.Asp783Gly). This variant is present in population databases (rs765443935, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 946038). 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 PCDH15 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.
Natera, Inc. RCV001833883 SCV002088477 uncertain significance Usher syndrome type 1F 2020-03-11 no assertion criteria provided clinical testing

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