ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723397 SCV000330954 pathogenic not provided 2015-12-03 criteria provided, single submitter clinical testing
Invitae RCV000022163 SCV000820168 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-12-09 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, 11397328, 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). This variant disrupts the p.Arg201 amino acid residue in GALT. Other variant(s) that disrupt this residue have been observed in individuals with GALT-related conditions (PMID: 22461411), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000022163 SCV001163241 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase criteria provided, single submitter clinical testing
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.
Counsyl RCV000022163 SCV000796864 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-01-04 no assertion criteria provided clinical testing

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