ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4265C>G (p.Ala1422Gly)

gnomAD frequency: 0.00001  dbSNP: rs772491935
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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 RCV005094306 SCV005819140 uncertain significance not provided 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1422 of the PCDH15 protein (p.Ala1422Gly). This variant is present in population databases (rs772491935, gnomAD 0.04%). 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: 990222). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PCDH15 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.
Natera, Inc. RCV001278198 SCV001465194 uncertain significance Usher syndrome type 1F 2020-08-14 no assertion criteria provided clinical testing

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