ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.97G>A (p.Asp33Asn)

gnomAD frequency: 0.00004  dbSNP: rs727503945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153303 SCV000202781 uncertain significance not provided 2014-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000638211 SCV000759697 uncertain significance UDPglucose-4-epimerase deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 33 of the GALE protein (p.Asp33Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). 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: 167126). 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 C15"). 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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