ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.7839G>C (p.Lys2613Asn) (rs13013209)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081143 SCV000113051 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081143 SCV000269437 benign not specified 2014-11-26 criteria provided, single submitter clinical testing p.Lys2613Asn in exon 57 of NEB: This variant is not expected to have clinical si gnificance because it has been identified in 47% (3979/8400) of European America n chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs13013209).
PreventionGenetics,PreventionGenetics RCV000081143 SCV000307392 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361795 SCV000416962 benign Nemaline myopathy 2 2018-01-12 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 RCV000081143 SCV000519516 benign not specified 2016-01-25 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.
Integrated Genetics/Laboratory Corporation of America RCV000589805 SCV000697838 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.7839G>C (p.Lys2613Asn) variant involves the alteration of a conserved nucleotide and 2/3 in silico tools (SNPs&GO and Mutation Taster not captured here due to low reliability index and p-value, respectively) predict a damaging outcome. This variant was found in 50096/120722 control chromosomes (11150 homozygotes) from ExAC at a frequency of 0.4149699, which is approximately 117 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), thus this variant is a common benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Therefore, the variant of interest has been classified as Benign.
Genetic Services Laboratory,University of Chicago RCV000081143 SCV000152031 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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