ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4982A>C (p.Asp1661Ala)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003077518 SCV003462249 likely benign Nemaline myopathy 2 2023-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004960986 SCV005451865 uncertain significance Inborn genetic diseases 2024-09-08 criteria provided, single submitter clinical testing The c.4982A>C (p.D1661A) alteration is located in exon 41 (coding exon 39) of the NEB gene. This alteration results from a A to C substitution at nucleotide position 4982, causing the aspartic acid (D) at amino acid position 1661 to be replaced by an alanine (A). 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.