ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.529_533del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226341 SCV001398653 pathogenic Glucose-6-phosphate transport defect 2019-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val177Cysfs*12) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with SLC37A4-related conditions. Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). For these reasons, this variant has been classified as Pathogenic.

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