ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.381+2T>G (rs782645078)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781850 SCV000920221 likely pathogenic Glucose-6-phosphate transport defect 2018-05-21 criteria provided, single submitter clinical testing Variant summary: SLC37A4 c.381+2T>G is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.2e-05 in 30900 control chromosomes (gnomAD). To our knowledge, no occurrence of c.381+2T>G in individuals affected with Glycogen Storage Disease Type Ib and no experimental evidence demonstrating its impact on protein function have 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

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