ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.650T>C (p.Leu217Pro)

dbSNP: rs111033741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000022172 SCV003440885 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 217 of the GALT protein (p.Leu217Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with galactose-1-phosphate uridylyltransferase deficiency (PMID: 10408771; 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: 25236). 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. 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.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000022172 SCV001133120 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-09-26 no assertion criteria provided clinical testing

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