ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1124+5G>A

dbSNP: rs2134627689
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007929 SCV002265478 uncertain significance Glucose-6-phosphate transport defect 2021-10-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 9 of the SLC37A4 gene. It does not directly change the encoded amino acid sequence of the SLC37A4 protein. It affects a nucleotide within the consensus splice site.

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