ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23009G>A (p.Gly7670Glu) (rs3732309)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174628 SCV000225959 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000174628 SCV000528777 benign not specified 2016-07-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000349303 SCV000416830 likely benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590034 SCV000697815 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.23009G>A (p.Gly7670Glu) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). 4/5 splice prediction tools predict strenthening of the canonical splicing site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 556/106474 control chromosomes (12 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.049128 (383/7796). This frequency is about 14 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely 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.
Invitae RCV000547636 SCV000640714 benign Nemaline myopathy 2 2017-12-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000174628 SCV000307308 benign not specified criteria provided, single submitter clinical testing

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