ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)

gnomAD frequency: 0.00002  dbSNP: rs782255299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001984624 SCV002209091 uncertain significance Glucose-6-phosphate transport defect 2021-08-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507632 SCV002816146 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2021-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042132 SCV005017826 uncertain significance Inborn genetic diseases 2023-11-28 criteria provided, single submitter clinical testing The p.G377S variant (also known as c.1129G>A), located in coding exon 8 of the SLC37A4 gene, results from a G to A substitution at nucleotide position 1129. The glycine at codon 377 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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