Submissions for variant NM_000155.4(GALT):c.688-2A>C (rs398123185)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000078234	SCV000110072	pathogenic	not provided	2012-11-01	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000781405	SCV000919407	likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2017-09-26	criteria provided, single submitter	clinical testing	Variant summary: The GALT c.688-2A>C variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict the complete loss of a 3' splice acceptor site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 5/245194 control chromosomes at a frequency of 0.0000204, which does not exceed the estimated maximal expected allele frequency of a pathogenic GALT variant (0.0028868). One clinical diagnostic laboratory/reputable database classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.