ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) (rs117048449)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000587827 SCV000842871 benign not provided 2018-03-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117755 SCV000229665 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000117755 SCV000519882 benign not specified 2016-05-18 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 RCV000117755 SCV000152011 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 RCV000336418 SCV000417019 likely benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587827 SCV000697828 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.3412A>G (p.Asn1138Asp) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 982/120580 control chromosomes (26 homozygotes) from ExAC at a frequency of 0.008144, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is likely a benign polymorphism. The variant is more common in East Asian sub-population with allele frequency of 7.57% (652/8602 chromosomes). In one case-control study, this variant did not confer increased risk for prostate cancer (Haiman_2013). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000525228 SCV000640778 benign Nemaline myopathy 2 2017-12-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117755 SCV000307345 benign not specified criteria provided, single submitter clinical testing

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