ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.647C>T (p.Ala216Val)

gnomAD frequency: 0.00010  dbSNP: rs542192037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273633 SCV000356616 uncertain significance UDPglucose-4-epimerase deficiency 2017-04-27 criteria provided, single submitter clinical testing The GALE c.647C>T (p.Ala216Val) missense variant has been reported in one study in which it is found in a compound heterozygous state in one individual with peripheral GALE deficiency (Li et al. 2014). Control data are unavailable for this variant, which is reported at a frequency of 0.00033 in the African population of the Exome Aggregation Consortium. GALE activity in patient erythrocytes was reduced to 0.5% of the mean GALE activity for controls. The evidence for this variant is limited. The p.Ala216Val variant is therefore classified as a variant of unknown significance, but suspicious for pathogenicity for epimerase deficiency galactosemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Eurofins Ntd Llc (ga) RCV000596938 SCV000700504 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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