ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.797A>G (p.Glu266Gly)

dbSNP: rs1821178890
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213845 SCV001385496 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-07-02 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in an individual affected with GALT-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glycine at codon 266 of the GALT protein (p.Glu266Gly). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and glycine.

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