Submissions for variant NM_000155.4(GALT):c.598del (p.Gln200fs)

dbSNP: rs111033738

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723396	SCV000232014	pathogenic	not provided	2014-06-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000022161	SCV000917423	likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2018-12-03	criteria provided, single submitter	clinical testing	Variant summary: GALT c.598delC (p.Gln200SerfsX19) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.610C>T (p.Arg204X) and c.947G>A (p.Trp316X)). The variant was absent in 246258 control chromosomes (gnomAD). c.598delC has been reported in the literature in an individual affected with Galactosemia (Tyfield_1999). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae	RCV000022161	SCV003440884	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2023-12-28	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln200Serfs*19) in the GALT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with classical galactosemia (PMID: 28391442). ClinVar contains an entry for this variant (Variation ID: 25225). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV000022161	SCV004198559	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2022-09-22	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271241	SCV001452285	likely pathogenic	Galactosemia	2020-09-16	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000723396	SCV001551302	uncertain significance	not provided		no assertion criteria provided	clinical testing