ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.367C>G (p.Arg123Gly) (rs111033674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000022078 SCV000755881 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-10-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 123 of the GALT protein (p.Arg123Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with galactosinemia (PMID: 9222760). ClinVar contains an entry for this variant (Variation ID: 25147). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Research and Development, ARUP Laboratories RCV000022078 SCV000042754 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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