ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.20131C>T (p.Arg6711Trp) (rs533233215)

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
Counsyl RCV000670617 SCV000795492 uncertain significance Nemaline myopathy 2 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV000670617 SCV000825758 uncertain significance Nemaline myopathy 2 2019-09-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 6711 of the NEB protein (p.Arg6711Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs533233215, ExAC 0.06%). This variant has been reported as in combination with another NEB variant in an individual affected with nemaline myopathy (PMID:28131200). This variant has also been reported as heterozygous in an individual affected with nemaline myopathy, however no second NEB variant was detected (PMID:29070751) Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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.
Illumina Clinical Services Laboratory,Illumina RCV000670617 SCV001289001 uncertain significance Nemaline myopathy 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Natera, Inc. RCV000670617 SCV001453266 uncertain significance Nemaline myopathy 2 2020-09-16 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.