ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro)

dbSNP: rs1555191353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667054 SCV000791447 uncertain significance Glucose-6-phosphate transport defect 2017-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278980 SCV003989566 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The p.L151P variant (also known as c.452T>C), located in coding exon 3 of the SLC37A4 gene, results from a T to C substitution at nucleotide position 452. The leucine at codon 151 is replaced by proline, 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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