ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.547C>A (p.Pro183Thr)

dbSNP: rs111033721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000003803 SCV000800703 uncertain significance Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000003803 SCV002257590 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2021-04-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this variant affects GALT protein function (PMID: 11152465). 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 variant has been observed in individual(s) with galactosemia (PMID: 8956044). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 3619). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 183 of the GALT protein (p.Pro183Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine.
OMIM RCV000003803 SCV000023968 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1996-01-01 no assertion criteria provided literature only

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