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

dbSNP: rs111033741

Total submissions: 3

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	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. 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. ClinVar contains an entry for this variant (Variation ID: 25236). 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. This variant is not present in population databases (gnomAD no frequency). 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).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000022172	SCV005438404	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2024-12-18	criteria provided, single submitter	clinical testing
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