ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr)

dbSNP: rs749713442
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001050908 SCV001215037 uncertain significance Nemaline myopathy 2 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 5597 of the NEB protein (p.Ala5597Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs749713442, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001759983 SCV001998715 uncertain significance not provided 2020-01-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004031576 SCV004978149 uncertain significance Inborn genetic diseases 2023-09-29 criteria provided, single submitter clinical testing The c.11686G>A (p.A3896T) alteration is located in exon 79 (coding exon 77) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 11686, causing the alanine (A) at amino acid position 3896 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001050908 SCV001456731 uncertain significance Nemaline myopathy 2 2020-03-11 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.