ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.814C>T (p.Arg272Cys) (rs111033766)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664855 SCV000788875 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-01-04 criteria provided, single submitter clinical testing
Invitae RCV000664855 SCV000831124 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-07-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 272 of the GALT protein (p.Arg272Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs111033766, ExAC 0.01%). This variant has been observed in individuals affected with autosomal recessive galactosemia (PMID: 20151200). 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: "Probably Damaging"; Align-GVGD: "Class C0"). A different missense variant that disrupts the p.Arg272 amino acid residue in GALT has been observed in affected individuals (PMID: 22944367). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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