ClinVar Miner

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

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Total submissions: 2
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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.

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