ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.142C>T (p.Arg48Cys)

gnomAD frequency: 0.00001  dbSNP: rs886042088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273060 SCV000331165 uncertain significance not provided 2015-09-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463740 SCV004198550 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-03-21 criteria provided, single submitter clinical testing
Invitae RCV003463740 SCV004294292 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-05-26 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Arg48 amino acid residue in GALT. Other variant(s) that disrupt this residue have been observed in individuals with GALT-related conditions (PMID: 31194895), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALT protein function. ClinVar contains an entry for this variant (Variation ID: 281058). This missense change has been observed in individual(s) with galactose-1-phosphate uridylyltransferase deficiency (PMID: 22944367). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 48 of the GALT protein (p.Arg48Cys).

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