ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.997C>G (p.Arg333Gly) (rs111033800)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000003807 SCV001137810 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000003807 SCV001163252 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase criteria provided, single submitter clinical testing
Invitae RCV000003807 SCV001205551 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-03-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 333 of the GALT protein (p.Arg333Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with galactosemia (PMID: 12872845, 10439960, 23749220). ClinVar contains an entry for this variant (Variation ID: 3623). This variant has been reported to affect GALT protein function (PMID: 23583749). This variant disrupts the p.Arg333 amino acid residue in GALT. Other variant(s) that disrupt this residue have been observed in individuals with GALT-related conditions (PMID: 25592817, 10384398, 10399107, 18207281, 1897530), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003807 SCV000023972 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1999-07-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000003807 SCV000042941 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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