ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)

dbSNP: rs782501672
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806503 SCV000946507 pathogenic Glucose-6-phosphate transport defect 2024-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser57Leufs*16) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). This variant is present in population databases (rs782501672, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with clinical features of SLC37A4-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 651195). For these reasons, this variant has been classified as Pathogenic.
Centogene AG - the Rare Disease Company RCV000806503 SCV001424491 pathogenic Glucose-6-phosphate transport defect criteria provided, single submitter clinical testing
Baylor Genetics RCV000806503 SCV004202478 pathogenic Glucose-6-phosphate transport defect 2023-11-19 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000806503 SCV005329286 likely pathogenic Glucose-6-phosphate transport defect 2023-05-20 criteria provided, single submitter clinical testing The observed frameshift variant c.169_175del(p.Ser57LeufsTer16) in SLC37A4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.169_175del variant has 0.002% allele frequency in gnomAD Exomes. This variant has been submitted to the ClinVar database as Pathogenic. However, study on multiple affected individuals and functional impact of the variant is not available. This variant causes a frameshift starting with codon Serine 57, changes this amino acid to Leucine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Ser57LeufsTer16. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing (Chen LY, et al., 2000). For these reasons, this variant has been classified as Likely Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.