ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1124+2dup (rs1459811938)

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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 RCV000781848 SCV000920219 likely pathogenic Glucose-6-phosphate transport defect 2017-10-30 criteria provided, single submitter clinical testing Variant summary: The SLC37A4 c.1123+2dupT variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict a significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 245012 control chromosomes (gnomAD). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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