ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala)

gnomAD frequency: 0.00001  dbSNP: rs1324280943
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
Invitae RCV000699827 SCV000828556 likely benign Nemaline myopathy 2 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649283 SCV005146332 uncertain significance Inborn genetic diseases 2024-05-29 criteria provided, single submitter clinical testing The c.1621C>G (p.P541A) alteration is located in exon 18 (coding exon 16) of the NEB gene. This alteration results from a C to G substitution at nucleotide position 1621, causing the proline (P) at amino acid position 541 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000699827 SCV002077815 uncertain significance Nemaline myopathy 2 2021-02-24 no assertion criteria provided 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.