ClinVar Miner

Submissions for variant NM_001164277.1(SLC37A4):c.1062C>T (p.Asn354=) (rs61730035)

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
GeneDx RCV000128141 SCV000171733 benign not specified 2014-01-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000128141 SCV000306905 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001083502 SCV000631376 benign Glucose-6-phosphate transport defect 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588945 SCV000697754 benign not provided 2016-04-19 criteria provided, single submitter clinical testing Variant Summary: The c.1062C>T (p.Asn354=) causes a synonymous change that involves a non-conserved nucleotide. 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 1.0% including numerous homozygous occurrences. This frequency exceeds the maximal expected allele frequency for a pathogenic variant in SLC37A4 gene (0.12%). The variant has been reported as a Polymorphism/Benign in literature (Zappu, 2010) and a clinical laboratory. Taken together, the variant has been classified as Benign.

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.