ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.428C>T (p.Ser143Leu)

dbSNP: rs111033697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000022111 SCV001163237 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022111 SCV001394641 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-09-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 143 of the GALT protein (p.Ser143Leu). This variant is present in population databases (rs111033697, gnomAD 0.003%). This missense change has been observed in individual(s) with galactosemia (PMID: 9222760, 22944367; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 37358). 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. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV003480038 SCV004226586 likely pathogenic not provided 2022-12-21 criteria provided, single submitter clinical testing PP3, PP4, PM2, PM3, PS4_moderate
Natera, Inc. RCV001831617 SCV002085206 likely pathogenic Galactosemia 2019-11-04 no assertion criteria provided clinical testing

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