ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.80A>G (p.Tyr27Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002291943 SCV002584067 uncertain significance not provided 2022-04-13 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003097801 SCV003300756 uncertain significance UDPglucose-4-epimerase deficiency 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 27 of the GALE protein (p.Tyr27Cys). This variant is present in population databases (rs532648624, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with GALE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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