ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.291-9A>G

dbSNP: rs1564789180
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781471 SCV000919528 uncertain significance not specified 2018-01-08 criteria provided, single submitter clinical testing Variant summary: The HRAS c.291-9A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, though 1 of these tools indicates this variant to strengthen the nearby canonical splice acceptor site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in ~246194 control chromosomes (in ExAC and gnomAD). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. The c.291-9A>G was identified in an ostensibly healthy adult without apparent clinical features of NSRD. Taken together, this variant is classified as VUS-possibly benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000864531 SCV001005341 likely benign Costello syndrome 2023-08-25 criteria provided, single submitter 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.