ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1099G>T (p.Ala367Ser)

gnomAD frequency: 0.00002  dbSNP: rs199537944
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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 RCV001339265 SCV001532997 uncertain significance not provided 2022-08-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 367 of the PCDH15 protein (p.Ala367Ser). This variant is present in population databases (rs199537944, gnomAD 0.08%). 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: 1036277). 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 RCV001339265 SCV005326199 uncertain significance not provided 2024-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001830411 SCV002091847 uncertain significance Usher syndrome type 1F 2020-02-13 no assertion criteria provided clinical testing

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