ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.607G>A (p.Glu203Lys)

gnomAD frequency: 0.00001  dbSNP: rs111033736
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003806 SCV000800550 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000003806 SCV000824551 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 203 of the GALT protein (p.Glu203Lys). This variant is present in population databases (rs111033736, gnomAD 0.003%). This missense change has been observed in individual(s) with galactosemia (PMID: 7887416). 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: 3622). 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.
Eurofins Ntd Llc (ga) RCV000727661 SCV000854967 pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000003806 SCV001163242 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000727661 SCV005413876 likely pathogenic not provided 2024-09-23 criteria provided, single submitter clinical testing PP3, PP4, PM2, PM3_strong
OMIM RCV000003806 SCV000023971 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2001-04-01 no assertion criteria provided literature only
Natera, Inc. RCV001271243 SCV001452287 uncertain significance Galactosemia 2020-09-16 no assertion criteria provided clinical testing

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