ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2441A>G (p.Asp814Gly)

gnomAD frequency: 0.00001  dbSNP: rs200430672
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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 RCV001296364 SCV001485325 uncertain significance not provided 2022-06-20 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 814 of the PCDH15 protein (p.Asp814Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with deafness (PMID: 32467589). ClinVar contains an entry for this variant (Variation ID: 1000256). 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: "Deleterious"; 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.
Natera, Inc. RCV001835397 SCV002088422 uncertain significance Usher syndrome type 1F 2020-09-03 no assertion criteria provided clinical testing

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