ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val)

gnomAD frequency: 0.00006  dbSNP: rs146955708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752614 SCV001997517 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001752614 SCV002290409 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 995 of the CEP152 protein (p.Ala995Val). This variant is present in population databases (rs146955708, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CEP152-related conditions. ClinVar contains an entry for this variant (Variation ID: 1311631). 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: "Possibly 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.
Fulgent Genetics, Fulgent Genetics RCV002488579 SCV002794031 uncertain significance Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive 2022-03-21 criteria provided, single submitter clinical testing

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