ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly)

gnomAD frequency: 0.00646  dbSNP: rs76767949
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000117772 SCV000231438 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117772 SCV000307393 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001081243 SCV000416959 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000117772 SCV000519884 benign not specified 2016-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001081243 SCV000640870 benign Nemaline myopathy 2 2021-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588859 SCV000697840 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.8189A>G (p.Asp2730Gly) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution in a nebulin repeat domain (InterPro). 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). 4/5 splice prediction tools predict creation of a de novo splice donor site and ESE finder predicts that this variant may introduce an SRp40 ESE site. However, these predictions have yet to be confirmed by functional studies. This variant was found in large control database ExAC in 970 of 97172 control chromosomes (27 homozygotes) of all ethnicities, but was predominantly observed in the East Asian subpopulation at a frequency of 0.091978 (649/7056 [25 homozygotes]). This frequency is about 26 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), providing strong evidence that this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as likely benign (2x in ClinVar) or benign (3x in ClinVar). Taken together, this variant is classified as benign.
Athena Diagnostics Inc RCV000588859 SCV000842876 benign not provided 2018-03-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117772 SCV000152032 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001081243 SCV001463532 benign 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.