ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.203G>A (p.Arg68Lys)

gnomAD frequency: 0.00001  dbSNP: rs1014627144
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
GeneDx RCV000484147 SCV000573950 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed in large population cohorts (Lek et al., 2016)
Ambry Genetics RCV003278836 SCV003971051 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The c.203G>A (p.R68K) alteration is located in exon 5 (coding exon 3) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 203, causing the arginine (R) at amino acid position 68 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001274321 SCV004548437 likely benign Nemaline myopathy 2 2024-02-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274321 SCV001458310 uncertain significance Nemaline myopathy 2 2020-01-17 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.