ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7382C>T (p.Pro2461Leu)

gnomAD frequency: 0.00001  dbSNP: rs560465803
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001840936 SCV002099749 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001840936 SCV002959986 benign not provided 2024-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543268 SCV003608128 uncertain significance Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing The c.7382C>T (p.P2461L) alteration is located in exon 33 (coding exon 33) of the ADGRV1 gene. This alteration results from a C to T substitution at nucleotide position 7382, causing the proline (P) at amino acid position 2461 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.