ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly)

dbSNP: rs776416750
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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 RCV001248284 SCV001421757 uncertain significance not provided 2022-01-06 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 1010 of the PCDH15 protein (p.Asp1010Gly). This variant is present in population databases (rs776416750, gnomAD 0.006%). This missense change has been observed in individual(s) with non-syndromic hearing loss. However, in that individual a second variant was not identified (PMID: 26279247). ClinVar contains an entry for this variant (Variation ID: 972291). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002570376 SCV003761102 likely pathogenic Usher syndrome type 1F 2023-01-24 criteria provided, single submitter curation

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