ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1063G>T (p.Glu355Ter) (rs121908975)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007331 SCV000945225 pathogenic Glucose-6-phosphate transport defect 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu355*) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with glycogen storage disease type Ib (PMID: 11949931), and has been shown on the opposite chromosome (in trans) from a pathogenic variant in an affected individual (PMID: 9428641). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 6922). Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007331 SCV000027529 pathogenic Glucose-6-phosphate transport defect 1997-12-15 no assertion criteria provided literature only

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