ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.113A>C (p.Gln38Pro)

dbSNP: rs111033646
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003062202 SCV003441369 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-03-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This missense change has been observed in individual(s) with galactosemia (PMID: 9222760, 25268296). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 38 of the GALT protein (p.Gln38Pro).

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