ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)

gnomAD frequency: 0.00121  dbSNP: rs28940885
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078697 SCV000110557 other not provided 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000003866 SCV001113707 likely benign UDPglucose-4-epimerase deficiency 2024-01-04 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000078697 SCV001468004 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing PS3_Supporting, BA1, PP3
OMIM RCV000003866 SCV000024031 pathogenic UDPglucose-4-epimerase deficiency 1998-01-01 no assertion criteria provided literature only
GeneReviews RCV000003866 SCV000040661 pathogenic UDPglucose-4-epimerase deficiency 2021-02-24 no assertion criteria provided literature only Assoc with asymptomatic peripheral epimerase deficiency galactosemia in African Americans
PreventionGenetics, part of Exact Sciences RCV003904802 SCV004720272 uncertain significance GALE-related disorder 2024-09-12 no assertion criteria provided clinical testing The GALE c.956G>A variant is predicted to result in the amino acid substitution p.Gly319Glu. This variant has been reported in two patients with GALE deficiency in erythrocytes and lymphoblasts; one of them was heterozygous for a second amino acid substitution (p.Ser81Arg) (Openo et al. 2006. PubMed ID 16385452). The authors in this study reported moderate to severe enzyme deficiencies based on in vitro activity assays. In contrast, others have reported that this amino acid change does not significantly affect the kinetics or activity of the GALE enzyme, and may therefore be a neutral polymorphism (Timson. 2005. PubMed ID: 16302980; Wasilenko et al. 2005. PubMed ID: 15639193). This variant has been reported at an allele frequency of ~0.4% in an African population, which is relatively high for a pathogenic variant. While we suspect that this variant may possibly be benign, its clinical significance is uncertain due to the conflicting published evidence.

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