ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.524G>A (p.Gly175Asp) (rs111033718)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507314 SCV000603794 pathogenic not specified 2017-02-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000022139 SCV000695695 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-01-08 criteria provided, single submitter clinical testing Variant summary: Variant of interest affects a conserved nucleotide and results in a replacement of a small size and hydrophobic Glycine (G) with a medium size and acidic Aspartate (D). 4/4 in silico tools predict disease causing outcome for this substitution. The variant is absent from the large and broad cohorts of the ExAC project while it has been observed in galactosemia patients either in compound heterozygosity with a common mutation Q188R or in homozygosity indicating the variant to be deleterious. Additionally, Coelho_MGGM_2014 demonstrated the variant to impair the catalytic activity of GALT further supporting a disease causing impact. Moreover, a clinical diagnostic laboratory classifies variant as pathogenic via Clinvar (without evidence to independently evaluate). Considering all evidence, the variant was classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000022139 SCV000042817 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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