ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) (rs111033666)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000482282 SCV000854788 pathogenic not provided 2017-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000482282 SCV000567775 pathogenic not provided 2015-08-26 criteria provided, single submitter clinical testing The Y89D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (Y89H, N86D and F95L) have been reported in the Human Gene Mutation Database in association with galactosemia (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, we interpret Y89D to be a pathogenic variant.
Research and Development, ARUP Laboratories RCV000022074 SCV000042750 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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