ClinVar Miner

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

gnomAD frequency: 0.00596  dbSNP: rs28940884
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003864 SCV000636278 benign UDPglucose-4-epimerase deficiency 2019-12-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) 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.
Mendelics RCV000003864 SCV001135217 likely benign UDPglucose-4-epimerase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000609606 SCV002500159 benign not specified 2022-03-07 criteria provided, single submitter clinical testing Variant summary: GALE c.770A>G (p.Lys257Arg) results in a conservative amino acid change in the encoded protein sequence. Two of three in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0014 in 248990 control chromosomes, predominantly at a frequency of 0.019 within the African or African-American subpopulation in the gnomAD database, including 5 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 17 fold of the estimated maximal expected allele frequency for a pathogenic variant in GALE causing UDPglucose-4-Epimerase Deficiency phenotype (0.0011), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and a majority consensus as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000592410 SCV003799128 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing PS3_Supporting, BA1
CeGaT Center for Human Genetics Tuebingen RCV000592410 SCV004700471 benign not provided 2024-02-01 criteria provided, single submitter clinical testing GALE: BS1, BS2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000609606 SCV004847446 likely benign not specified 2024-02-21 criteria provided, single submitter clinical testing The p.Lys257Arg variant in GALE is classified as likely benign because it has been identified in 1.9% (1474/75008) of African chromosomes, including 24 total homozygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BS1.
OMIM RCV000003864 SCV000024029 pathogenic UDPglucose-4-epimerase deficiency 1998-01-01 no assertion criteria provided literature only
GeneReviews RCV000003864 SCV000040659 pathogenic UDPglucose-4-epimerase deficiency 2021-02-24 no assertion criteria provided literature only Assoc with asymptomatic peripheral epimerase deficiency galactosemia in African Americans

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