ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)

dbSNP: rs1295327218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579267 SCV001806737 uncertain significance Glucose-6-phosphate transport defect 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579268 SCV001806738 uncertain significance Phosphate transport defect 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001579267 SCV002316846 uncertain significance Glucose-6-phosphate transport defect 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 237 of the SLC37A4 protein (p.Phe237Leu). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1209841). 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.

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