ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val)

gnomAD frequency: 0.00002  dbSNP: rs555640045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319235 SCV000342298 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518026 SCV003461127 uncertain significance Glucose-6-phosphate transport defect 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 280 of the SLC37A4 protein (p.Ala280Val). This variant is present in population databases (rs555640045, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of SLC37A4-related conditions (PMID: 30290665). ClinVar contains an entry for this variant (Variation ID: 288246). 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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