ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu)

gnomAD frequency: 0.00014  dbSNP: rs199880827
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992871 SCV001145438 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000992871 SCV002311144 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550647 SCV003676923 uncertain significance Inborn genetic diseases 2021-06-15 criteria provided, single submitter clinical testing The c.6572C>T (p.P2191L) alteration is located in exon 34 (coding exon 33) of the SPTBN2 gene. This alteration results from a C to T substitution at nucleotide position 6572, causing the proline (P) at amino acid position 2191 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000992871 SCV005882433 uncertain significance not provided 2024-09-05 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in association with an SPTBN2-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 26740555, 28719003)

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.