ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1006A>T (p.Met336Leu)

gnomAD frequency: 0.00004  dbSNP: rs111033810
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022261 SCV000800643 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022261 SCV002232801 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 336 of the GALT protein (p.Met336Leu). This variant is present in population databases (rs111033810, gnomAD 0.004%). This missense change has been observed in individual(s) with galactosemia (PMID: 11397328, 17876724). ClinVar contains an entry for this variant (Variation ID: 25315). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000022261 SCV004198508 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-02-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480034 SCV004226604 likely pathogenic not provided 2022-12-21 criteria provided, single submitter clinical testing PP3, PP4, PM2, PM3, PS4_moderate

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