ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002454985 SCV002613529 uncertain significance Inborn genetic diseases 2022-07-11 criteria provided, single submitter clinical testing The p.P119R variant (also known as c.356C>G), located in coding exon 2 of the SLC37A4 gene, results from a C to G substitution at nucleotide position 356. The proline at codon 119 is replaced by arginine, an amino acid with dissimilar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099586 SCV003482172 uncertain significance Glucose-6-phosphate transport defect 2022-04-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 119 of the SLC37A4 protein (p.Pro119Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. 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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