ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly)

gnomAD frequency: 0.00001  dbSNP: rs763251067
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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 RCV001241073 SCV001414063 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1901 of the PCDH15 protein (p.Ser1901Gly). This variant is present in population databases (rs763251067, gnomAD 0.007%). 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: 966407). 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: "Not Available"; 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.
Natera, Inc. RCV001834139 SCV002075898 uncertain significance Usher syndrome type 1F 2020-04-13 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813983 SCV005071869 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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