ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)

gnomAD frequency: 0.00005  dbSNP: rs782475284
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342324 SCV001536248 uncertain significance Glucose-6-phosphate transport defect 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 315 of the SLC37A4 protein (p.Met315Val). This variant is present in population databases (rs782475284, gnomAD 0.006%). 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: 1038940). 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.
Genome-Nilou Lab RCV001342324 SCV001806735 uncertain significance Glucose-6-phosphate transport defect 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579266 SCV001806736 uncertain significance Phosphate transport defect 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001342324 SCV002078707 uncertain significance Glucose-6-phosphate transport defect 2020-06-25 no assertion criteria provided clinical testing

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