Submissions for variant NM_000155.4(GALT):c.598del (p.Gln200fs) (rs111033738)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000723396	SCV000232014	pathogenic	not provided	2014-06-27	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	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.
Research and Development, ARUP Laboratories	RCV000022161	SCV000042842	pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2012-12-04	no assertion criteria provided	clinical testing	Converted during submission to Pathogenic.