ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala)

dbSNP: rs781846380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670668 SCV000795552 uncertain significance Glucose-6-phosphate transport defect 2017-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386149 SCV002695661 uncertain significance Inborn genetic diseases 2021-11-14 criteria provided, single submitter clinical testing The p.P43A variant (also known as c.127C>G), located in coding exon 1 of the SLC37A4 gene, results from a C to G substitution at nucleotide position 127. The proline at codon 43 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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