ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8734T>C (p.Ser2912Pro) (rs6713162)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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.
Illumina Clinical Services Laboratory,Illumina RCV000383498 SCV000416951 benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.
Laboratory for Molecular Medicine,Partners HealthCare 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 RCV000117776 SCV000307399 benign not specified criteria provided, single submitter clinical testing

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