ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1812A>C (p.Glu604Asp)

gnomAD frequency: 0.00001  dbSNP: rs771456526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218862 SCV001390767 uncertain significance not provided 2021-12-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 604 of the PCDH15 protein (p.Glu604Asp). This variant is present in population databases (rs771456526, gnomAD 0.0009%). 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: 947729). 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"). 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.
GeneDx RCV001218862 SCV005375702 uncertain significance not provided 2023-11-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15537665)
Natera, Inc. RCV001278999 SCV001466054 uncertain significance Usher syndrome type 1F 2020-04-17 no assertion criteria provided clinical testing

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