ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.997C>T (p.Arg333Trp) (rs111033800)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000003794 SCV000052480 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723400 SCV000110084 pathogenic not provided 2016-09-02 criteria provided, single submitter clinical testing
Counsyl RCV000003794 SCV000220483 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-07-08 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000003794 SCV000611198 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV000003794 SCV000631399 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 333 of the GALT protein (p.Arg333Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs111033800, ExAC 0.01%). This variant has been observed as homozygous or in combination with other GALT variants in individuals affected with classic or Duarte variant galactosemia (PMID: 25592817, 10384398, 10399107, 18207281, 1897530). In addition, there is evidence for disease co-segregation in a family (PMID: 19181333). ClinVar contains an entry for this individual (Variation ID: 3610). Experimental studies have shown that this variant impairs GALT enzyme function in vitro (PMID: 11152465, 12208137, 1897530). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003794 SCV000023959 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1996-12-13 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000003794 SCV000042942 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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