ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.754C>A (p.Gln252Lys)

dbSNP: rs1564101859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781407 SCV000919409 uncertain significance not specified 2018-12-27 criteria provided, single submitter clinical testing Variant summary: GALT c.754C>A (p.Gln252Lys) results in a conservative amino acid change in the C-terminal domain (IPR005850) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 245788 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.754C>A in individuals affected with Galactosemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001347764 SCV001542039 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2020-06-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 252 of the GALT protein (p.Gln252Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GALT-related conditions. ClinVar contains an entry for this variant (Variation ID: 633238). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001825535 SCV002085231 uncertain significance Galactosemia 2018-11-30 no assertion criteria provided clinical testing

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