ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.607G>A (p.Glu203Lys) (rs111033736)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003806 SCV000800550 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-06-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727661 SCV000854967 pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing
GeneReviews RCV000003806 SCV000147997 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2014-04-03 no assertion criteria provided literature only
Invitae RCV000003806 SCV000824551 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-07-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 203 of the GALT protein (p.Glu203Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual with very low GALT enzymatic activity. Other family members with this variant in heterozygosity had enzymatic activities compared to homozygous wild-type, however, an unrelated individual with this variant in heterozygosity showed low GALT enzymatic activity (PMID: 7887416). ClinVar contains an entry for this variant (Variation ID: 3622). Experimental studies have shown that this missense change causes a 50% reduction in GALT enzymatic activity when in heterozygosity in vitro, however, when the in vitro assay included a known bening variant in cis with this variant, the enzymatic activity was similar to wild-type (PMID: 11261429, 9450900). The clinical relevance of these results is unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000003806 SCV000023971 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2001-04-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000003806 SCV000042845 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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