ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val)

dbSNP: rs193302877
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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 RCV001316908 SCV001507548 uncertain significance Glucose-6-phosphate transport defect 2020-11-30 criteria provided, single submitter clinical testing 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. 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. This variant disrupts the p.Gly50 amino acid residue in SLC37A4. Other variant(s) that disrupt this residue have been observed in individuals with SLC37A4-related conditions (PMID: 21629566, 28224773), which suggests that this may be a clinically significant amino acid residue. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of glycogen storage disease (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 50 of the SLC37A4 protein (p.Gly50Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.

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