ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.927del (p.Gly310fs)

dbSNP: rs1943557200
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050145 SCV001214241 pathogenic Glucose-6-phosphate transport defect 2019-06-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 sequence change creates a premature translational stop signal (p.Gly310Alafs*2) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product.

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