ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.448G>A (p.Gly150Arg) (rs193302883)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794844 SCV000934276 likely pathogenic Glucose-6-phosphate transport defect 2018-10-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 150 of the SLC37A4 protein (p.Gly150Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with other SLC37A4 variants in several individuals affected with glycogen storage disease (GSD) (PMID: 9758626, 10940311), and to be homozygous in an individual with clinical features of GSD (Invitae). This variant is also known as 617G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 68281). Experimental studies have shown that this missense change disrupts SLC37A4 protein function (PMID: 12444104, 18835800). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
UniProtKB/Swiss-Prot RCV000059132 SCV000090661 not provided not provided no assertion provided not provided

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