ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.552C>A (p.His184Gln) (rs111033717)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022146 SCV000800628 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000493954 SCV000582003 likely pathogenic not provided 2016-09-07 criteria provided, single submitter clinical testing The H184Q variant in the GALT gene has been reported previously in patients with galactosemia (Tyfield et al. 1999; Yang et al. 2002). The H184Q variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The H184Q variant is a semi-conservative amino acid substitution. The H184Q variant occurs at a position within the catalytic site of the galactose 1-phosphate uridyltransferase protein that is conserved across species (Elsas et al. 1998). In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret H184Q as being likely pathogenic.
Research and Development, ARUP Laboratories RCV000022146 SCV000042825 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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