ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) (rs72468681)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080498 SCV000112400 benign not specified 2015-09-24 criteria provided, single submitter clinical testing
GeneDx RCV000080498 SCV000168171 benign not specified 2014-03-31 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.
CSER _CC_NCGL, University of Washington RCV000211534 SCV000212216 benign Primary dilated cardiomyopathy 2015-03-11 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080498 SCV000268951 benign not specified 2015-03-12 criteria provided, single submitter clinical testing p.Asn797Lys in exon 20 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (432/37288) European (Non-Finni sh) chromosomes by the Exome Aggregation Consortium Sequencing Project (http://e; dbSNP rs72468681). In addition, 5 individuals in this European cohort were homozygous and 141 were hemizygous fo r this variant.
Invitae RCV001081169 SCV000288049 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242843 SCV000318674 benign Cardiovascular phenotype 2015-09-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080498 SCV000883723 benign not specified 2018-07-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000756021 SCV000987367 likely benign not provided criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853042 SCV000995799 benign Dilated cardiomyopathy 2019-03-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001168045 SCV001330603 likely benign Dilated cardiomyopathy 3B 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000080498 SCV001426846 benign not specified 2020-07-09 criteria provided, single submitter clinical testing Variant summary: DMD c.2391T>G (p.Asn797Lys) results in a non-conservative amino acid change located in the Central rod domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0065 in 178379 control chromosomes, predominantly at a frequency of 0.011 within the Non-Finnish European subpopulation in the gnomAD database, including 6 homozygotes. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 997 fold of the estimated maximal expected allele frequency for a pathogenic variant in DMD causing Dystrophinopathies phenotype (1.1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. To our knowledge, no experimental evidence demonstrating its impact on protein function have been reported. Eight ClinVar submitters (evaluation after 2014) cite the variant as benign (7x) and likely benign (1x). Based on the evidence outlined above, the variant was classified as benign.

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