ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) (rs33988153)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081112 SCV000113020 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081112 SCV000269411 benign not specified 2014-11-26 criteria provided, single submitter clinical testing p.Pro5637Pro in exon 107 of NEB: This variant is not expected to have clinical s ignificance because it has been identified in 25% (2064/8154) of European Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/; dbSNP rs33988153).
PreventionGenetics,PreventionGenetics RCV000081112 SCV000307257 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333036 SCV000416924 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 RCV000081112 SCV000519534 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 RCV000081112 SCV000919860 benign not specified 2018-01-02 criteria provided, single submitter clinical testing Variant summary: The NEB c.16911A>G (p.Pro5637Pro) variant involves the alteration of a non-conserved nucleotide located in a Nebulin repeat (IPR000900) (InterPro), resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 53815/276434 control chromosomes (6444 homozygotes) at a frequency of 0.1946758, which is approximately 55 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting 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 RCV000992423 SCV001144708 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081112 SCV000151974 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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