ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) (rs35974308)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000117773 SCV000269438 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Arg2773Gln in exon 60 of NEB: This variant is not expected to have clinical si gnificance because it has been identified in 2.8% (234/8218) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs35974308).
PreventionGenetics,PreventionGenetics RCV000117773 SCV000307395 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000556961 SCV000416958 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 RCV000117773 SCV000519525 benign not specified 2016-03-12 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.
Athena Diagnostics Inc RCV000117773 SCV000614184 benign not specified 2016-10-20 criteria provided, single submitter clinical testing
Invitae RCV000556961 SCV000640872 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590623 SCV000697841 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.8318G>A (p.Arg2773Gln) variant involves the alteration of a conserved nucleotide and 3/4 in silico tools (SNPs&GO not captured here due to low reliability index) predict a damaging outcome. This variant was found in 2834/120142 control chromosomes (37 homozygotes) from ExAC at a frequency of 0.0235888, which is approximately 7 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), strongly supporting that this variant is likely a benign polymorphism. The variant is more common in East Asian sub-population with allele frequency of 4.5% (751/16334 chromosomes). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as "likely benign/benign." Therefore, the variant of interest has been classified as Benign.
Genetic Services Laboratory,University of Chicago RCV000117773 SCV000152033 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.

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