ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.998G>A (p.Arg333Gln) (rs111033808)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022258 SCV000485649 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-01-21 criteria provided, single submitter clinical testing
Invitae RCV000022258 SCV000933081 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-11-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 333 of the GALT protein (p.Arg333Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs111033808, ExAC 0.01%). This variant has been observed in individuals affected with classic galactosemia (PMID: 10573007, 25124065). ClinVar contains an entry for this variant (Variation ID: 38288). Experimental studies have shown that this missense change impairs enzyme activity (PMID: 10573007). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant disrupts the p.Arg333 amino acid residue in GALT. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 19181333, 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.
Research and Development, ARUP Laboratories RCV000022258 SCV000042943 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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