ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.13604T>C (p.Ile4535Thr)

gnomAD frequency: 0.00249  dbSNP: rs75161557
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000957691 SCV001104506 benign not provided 2023-08-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000957691 SCV001549749 likely benign not provided no assertion criteria provided clinical testing The RNF213 p.I4535T variant was not identified in the literature but was identified in dbSNP (ID: rs75161557) and ClinVar (classified as benign by Invitae). The variant was identified in control databases in 218 of 282906 chromosomes (0 homozygous) at a frequency of 0.0007706, and was observed at the highest frequency in the African population in 202 of 24972 chromosomes (freq: 0.008089) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.I4535 residue is not conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely 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.