ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.4471G>A (p.Val1491Met) (rs7426114)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081137 SCV000113045 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000081137 SCV000269431 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.4471G) is the minor allele. This a llele (G) has been identified in 17% (1414/8444) of European American chromosome s and 68% (2878/4234) of African American chromosomes by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs7426114) and thus meets criteria to be classified as benign.
PreventionGenetics,PreventionGenetics RCV000081137 SCV000307357 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348796 SCV000416999 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 RCV000081137 SCV000519514 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 RCV000589707 SCV000697832 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.4471G>A (p.Val1491Met) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPs&GO not working, MutationTaster not captured due to low p-value). This variant was found in 89152/120710 control chromosomes (34995 homozygotes) at a frequency of 0.7385635, which is approximately 209 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), evidence that this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Athena Diagnostics Inc RCV000589707 SCV001144725 benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Invitae RCV000348796 SCV001728006 benign Nemaline myopathy 2 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001542995 SCV001761435 benign ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000348796 SCV001761436 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081137 SCV000152016 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. RCV000348796 SCV001455500 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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