ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.1070C>T (p.Ala357Val)

gnomAD frequency: 0.00004  dbSNP: rs148783821
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507375 SCV001712895 uncertain significance not provided 2019-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001507375 SCV002146993 uncertain significance not provided 2021-12-03 criteria provided, single submitter clinical testing 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"). ClinVar contains an entry for this variant (Variation ID: 1162813). This variant has not been reported in the literature in individuals affected with COX10-related conditions. This variant is present in population databases (rs148783821, gnomAD 0.05%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 357 of the COX10 protein (p.Ala357Val). 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 RCV002501736 SCV002814622 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2022-03-01 criteria provided, single submitter clinical testing
GeneDx RCV001507375 SCV003853030 uncertain significance not provided 2022-09-28 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

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