ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)

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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 RCV003027110 SCV003324312 pathogenic Glucose-6-phosphate transport defect 2022-05-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr343Leufs*58) in the SLC37A4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 87 amino acid(s) of the SLC37A4 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts a region of the SLC37A4 protein in which other variant(s) (p.Arg415*) have been determined to be pathogenic (PMID: 10482962, 10931421, 15059622, 21575371). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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