ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.98G>A (p.Arg33His) (rs111033829)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000022051 SCV000919402 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-04-09 criteria provided, single submitter clinical testing Variant summary: GALT c.98G>A (p.Arg33His) results in a non-conservative amino acid change located in the N-terminal domain (IPR005849) of the galactose-1-phosphate uridyl-transferase. Five of five in-silico tools predict a damaging effect of the variant on protein function. Two in silico studies predicted the variant to disrupt enzyme structure and/or function via crystal structure and computational models (McCorvie 2016, Facchiano 2010). The variant was absent in 121352 control chromosomes. c.98G>A has been reported in the literature in individuals affected with galactosemia (Gort 2006, Garcia 2016). The same publications report GALT enzyme activities below the normal range in erythrocytes from patients, suggesting a deleterious effect of the variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Research and Development, ARUP Laboratories RCV000022051 SCV000042726 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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