ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=)

dbSNP: rs1315203966
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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 RCV001954625 SCV002195976 uncertain significance Glucose-6-phosphate transport defect 2021-06-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SLC37A4-related conditions. This sequence change affects codon 127 of the SLC37A4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLC37A4 protein. This variant also falls at the last nucleotide of exon 4, which is part of the consensus splice site for this exon.

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