Submissions for variant NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)

dbSNP: rs111033818

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000022271	SCV000485672	likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2016-01-25	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000022271	SCV001163255	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2023-12-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000022271	SCV003440786	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2022-03-11	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with galactose-1-phosphate uridylyltransferase deficiency (PMID: 17486650). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln353*) in the GALT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the GALT protein. ClinVar contains an entry for this variant (Variation ID: 25325). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GALT protein in which other variant(s) (p.Glu363Lys) have been determined to be pathogenic (PMID: 21150919, 30718057). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.