ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.82C>T (p.Arg28Cys) (rs193302882)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634548 SCV000755867 pathogenic Glucose-6-phosphate transport defect 2019-04-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 28 of the SLC37A4 protein (p.Arg28Cys). The cysteine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs193302882, ExAC 0.002%). This variant has been reported in combination with other variants in the SLC37A4 gene in several individuals affected with glycogen storage disease (PMID: 9758626, 10482962, 10518030, 10940311, 11949931, 24565827). ClinVar contains an entry for this variant (Variation ID: 68291). Experimental studies have shown that this missense change has a deleterious impact on protein function (PMID: 12444104). For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000059142 SCV000090671 not provided not provided no assertion provided not provided

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