ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1547+18T>G

gnomAD frequency: 0.37194  dbSNP: rs2425906
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128128 SCV000171720 benign not specified 2012-11-20 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, part of Exact Sciences RCV000128128 SCV000314731 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000128128 SCV001361151 benign not specified 2019-08-12 criteria provided, single submitter clinical testing Variant summary: SLC2A10 c.1547+18T>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.42 in 250922 control chromosomes, predominantly at a frequency of 0.61 within the East Asian subpopulation in the gnomAD database, including 3377 homozygotes. Therefore, suggesting the variant is the major allele found in population(s) of East Asian origin. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Genome-Nilou Lab RCV001808353 SCV002058023 benign Arterial tortuosity syndrome 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001808353 SCV002465258 benign Arterial tortuosity syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000128128 SCV001807623 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000128128 SCV001965158 benign not specified no assertion criteria provided clinical testing

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.