ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) (rs28940884)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003864 SCV000636278 benign UDPglucose-4-epimerase deficiency 2018-05-10 criteria provided, single submitter clinical testing The GALE gene is associated with autosomal recessive epimerase deficiency galactosemia (MedGen UID: 199598). This result is consistent with abnormal biochemical laboratory findings but does not cause clinical epimerase deficiency galactosemia. This variant is present in population databases (rs28940884, ExAC 2.0%) at a frequency higher than expected for epimerase deficiency galactosemia. This variant has been described in the literature in asymptomatic individuals who presented with red blood cell (RBC) galactose epimerase deficiency on enzyme analysis (PMID: 9538513, 16385452). It has also been observed as homozygous in several asymptomatic individuals with low or possibly low RBC GALE activity (EGL Genetics, personal communication). In addition, experimental studies have shown that this missense change is able to rescue yeast cells null for GALE (PMID: 15639193, 16302980). In summary, although individuals with this variant can exhibit galactose epimerase deficiency during enzyme analysis, they do not develop symptoms. In addition, this variant is present in population databases at a frequency higher than expected for the disease. For these reasons, this variant has been classified as Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592410 SCV000700362 other not provided 2017-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000609606 SCV000730667 likely benign not specified 2018-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
OMIM RCV000003864 SCV000024029 pathogenic UDPglucose-4-epimerase deficiency 1998-01-01 no assertion criteria provided literature only
GeneReviews RCV000003864 SCV000040659 pathologic UDPglucose-4-epimerase deficiency 2011-01-25 no assertion criteria provided curation Converted during submission to Pathogenic.

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