ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.964G>A (p.Glu322Lys)

gnomAD frequency: 0.00004  dbSNP: rs759451802
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
Athena Diagnostics RCV000516221 SCV000615502 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362810 SCV004065030 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.964G>A (p.E322K) alteration is located in exon 9 (coding exon 8) of the SPTBN2 gene. This alteration results from a G to A substitution at nucleotide position 964, causing the glutamic acid (E) at amino acid position 322 to be replaced by a lysine (K). 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.