ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.602G>A (p.Arg201His) (rs111033735)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022163 SCV000796864 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-01-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723397 SCV000330954 pathogenic not provided 2015-12-03 criteria provided, single submitter clinical testing
Invitae RCV000022163 SCV000820168 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-02-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 201 of the GALT protein (p.Arg201His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs111033735, ExAC 0.02%). This variant has been observed in combination with other GALT variants in individuals affected with galactose-1-phosphate uridyltransferase deficiency which is specific for Duarte or classic galactosemia (PMID: 20547145, Invitae). ClinVar contains an entry for this variant (Variation ID: 25227). Experimental studies have shown that this missense change causes partial reduction of enzyme activity in vitro (PMID: 11152465). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Research and Development, ARUP Laboratories RCV000022163 SCV000042844 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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