ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)

dbSNP: rs1943618079
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390723 SCV001592525 pathogenic Glucose-6-phosphate transport defect 2020-10-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp165*) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product.

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