ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1049C>T (p.Thr350Ile)

dbSNP: rs775317639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594103 SCV000702083 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Invitae RCV001867922 SCV002265857 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-07-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Thr350 amino acid residue in GALT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8741038, 11152465). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 497522). This missense change has been observed in individual(s) with clinical features of galactosemia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 350 of the GALT protein (p.Thr350Ile).

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