Submissions for variant NM_000155.4(GALT):c.377+7A>G

dbSNP: rs376026879

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588277	SCV000695690	uncertain significance	not provided	2017-04-28	criteria provided, single submitter	clinical testing	Variant summary: The GALT c.377+7A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121326 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic GALT variant (0.0028868). The variant of interest has been reported in 1 newborn with elevated galactose level, however his repeated test results were wnl. The c.377+7A>G variant has not been cited by any reputable databases/clinical diagnostic laboratories. Due to the absence of clinical information and lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae	RCV002065130	SCV002450673	likely benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2023-11-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001276264	SCV001462313	uncertain significance	Galactosemia	2020-09-16	no assertion criteria provided	clinical testing