ClinVar Miner

Submissions for variant NM_001271838.2(RSRC1):c.495-2A>G

dbSNP: rs1727334508
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266696 SCV001444873 pathogenic Inborn genetic diseases 2020-12-01 criteria provided, single submitter clinical testing The c.495-2A>G intronic alteration consists of a A to G substitution two nucleotides before exon 5 (coding exon 4) of the RSRC1 gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD), the RSRC1 c.495-2A>G alteration was not observed, with coverage at this position. The c.495-2A nucleotide is conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. Based on the available evidence, this alteration is classified as 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.