ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.2273G>C (p.Gly758Ala)

dbSNP: rs573522549
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522595 SCV000619063 uncertain significance not provided 2020-03-05 criteria provided, single submitter clinical testing 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000522595 SCV002258242 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 758 of the UNC80 protein (p.Gly758Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs573522549, ExAC 0.05%). This variant has not been reported in the literature in individuals with UNC80-related conditions. ClinVar contains an entry for this variant (Variation ID: 450473). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
CeGaT Center for Human Genetics Tuebingen RCV000522595 SCV004183860 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing

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