ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.584T>C (p.Leu195Pro) (rs111033728)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000022158 SCV000052469 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 RCV000224416 SCV000110068 pathogenic not provided 2015-09-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224416 SCV000280877 pathogenic not provided 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV000022158 SCV000818252 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 195 of the GALT protein (p.Leu195Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs111033728, ExAC 0.01%). This variant has been reported in several individuals affected with galactosemia, in many cases in combination with other known pathogenic variants in the GALT gene (PMID: 8598637, 10649501, 1373122, 19375122, 22944367). ClinVar contains an entry for this variant (Variation ID: 25222). Experimental studies have shown that this missense change reduces GALT enzymatic activity in vitro (PMID: 1373122). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000022158 SCV000893810 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-10-31 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000022158 SCV000042839 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.
GeneReviews RCV000022158 SCV000147996 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-04-03 no assertion criteria provided literature only
Counsyl RCV000022158 SCV000678153 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2015-06-06 no assertion criteria provided clinical testing

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