ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg)

dbSNP: rs782552989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670525 SCV000795386 uncertain significance Glucose-6-phosphate transport defect 2017-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670525 SCV002197682 uncertain significance Glucose-6-phosphate transport defect 2021-08-27 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 554828). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 392 of the SLC37A4 protein (p.Ser392Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine.

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