ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.855G>T (p.Lys285Asn) (rs111033773)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508238 SCV000603795 pathogenic not specified 2017-02-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224446 SCV000281425 pathogenic not provided 2015-09-14 criteria provided, single submitter clinical testing
Counsyl RCV000003805 SCV000678171 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2015-06-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224446 SCV000110077 pathogenic not provided 2018-06-12 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000003805 SCV000894465 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000003805 SCV000147999 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-04-03 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000003805 SCV000052475 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Invitae RCV000003805 SCV000813007 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-10-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 285 of the GALT protein (p.Lys285Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs111033773, ExAC 0.03%). This variant has been observed in individuals with low GALT enzyme activity, findings that are highly specific for galactose-1-phosphate uridylyltransferase deficiency (PMID: 18210213, 25592817, 16540753, Invitae). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in individuals affected with galactose-1-phosphate uridylyltransferase deficiency (PMID: 25592817, 16540753, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 3621). Experimental studies have shown that this missense change results in a GALT protein with null enzymatic activity (PMID: 18210213, 11152465, 25614870). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003805 SCV000023970 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1997-01-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000003805 SCV000042903 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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