ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)

gnomAD frequency: 0.31314  dbSNP: rs6713162
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000117776 SCV000269441 benign not specified 2014-11-26 criteria provided, single submitter clinical testing p.Ser2912Pro in exon 62 of NEB: This variant is not expected to have clinical si gnificance because it has been identified in 60% (2256/3774) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs6713162).
PreventionGenetics, part of Exact Sciences RCV000117776 SCV000307399 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383498 SCV000416951 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 RCV000117776 SCV000518387 benign not specified 2016-01-05 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587395 SCV000697842 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.8734T>C (p.Ser2912Pro) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not working at the time of classification). This variant was found in 30671/120746 control chromosomes (5615 homozygotes) at a frequency of 0.2540126, which is approximately 72 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), evidence this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Athena Diagnostics Inc RCV000587395 SCV001144731 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Invitae RCV000383498 SCV001716707 benign Nemaline myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543083 SCV001761585 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000383498 SCV001761586 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117776 SCV000152036 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. RCV000383498 SCV001463524 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.