ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.755T>C (p.Ile252Thr)

gnomAD frequency: 0.00009  dbSNP: rs148834880
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180498 SCV000232953 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001048997 SCV001213028 uncertain significance UDPglucose-4-epimerase deficiency 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 252 of the GALE protein (p.Ile252Thr). This variant is present in population databases (rs148834880, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GALE-related conditions. ClinVar contains an entry for this variant (Variation ID: 199015). 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: "Benign"; Align-GVGD: "Class C25"). 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 RCV000180498 SCV004123513 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing GALE: PM3, PM2:Supporting, PP3

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