ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) (rs193302888)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169286 SCV000220597 likely pathogenic Glucose-6-phosphate transport defect 2014-08-15 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169286 SCV001338401 pathogenic Glucose-6-phosphate transport defect 2020-02-03 criteria provided, single submitter clinical testing Variant summary: SLC37A4 c.572C>T (p.Pro191Leu) results in a non-conservative amino acid change located in the Major facilitator superfamily domain (IPR020846) of the encoded protein sequence. Two of two in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248940 control chromosomes (gnomAD). c.572C>T has been reported in the literature in individuals affected with Glycogen Storage Disease Type Ib (Lam_2000. Yuen_2002, Zhang_2019). These data indicate that the variant is likely to be associated with disease. At least one publication reports this variant has an impact on protein function and results in decreasing G6P update activity (Chen_2002). 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 pathogenic.
UniProtKB/Swiss-Prot RCV000059136 SCV000090665 not provided not provided no assertion provided not provided

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