ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr) (rs200270156)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000501113 SCV000595953 uncertain significance not specified 2016-08-26 criteria provided, single submitter clinical testing
Invitae RCV000536707 SCV000640501 uncertain significance Nemaline myopathy 2 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 3778 of the NEB protein (p.Ile3778Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs200270156, ExAC 0.01%). This variant has been reported in a deceased fetus potentially affected with nemaline myopathy (PMID: 27168972). ClinVar contains an entry for this variant (Variation ID: 435964). 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"; PolyPhen-2: "Unknown"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on NEB function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000536707 SCV000789031 uncertain significance Nemaline myopathy 2 2016-12-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000536707 SCV001289368 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. RCV000536707 SCV001459402 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.