ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) (rs1800273)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080734 SCV000112636 benign not specified 2014-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000080734 SCV000168134 benign not specified 2014-03-11 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080734 SCV000268967 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Arg2155Trp in exon 45 of DMD: This variant is not expected to have clinical si gnificance because it has been identified in 3.8% (254/6725) of European America n chromosomes by the NHLBI Exome Sequencing Project ( u/EVS/; dbSNP rs1800273).
Invitae RCV000233842 SCV000288066 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080734 SCV000309939 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243807 SCV000317993 benign Cardiovascular phenotype 2015-06-29 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
Illumina Clinical Services Laboratory,Illumina RCV000351438 SCV000482234 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080734 SCV000603340 benign not specified 2018-11-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576530 SCV000677276 benign Becker muscular dystrophy; Duchenne muscular dystrophy 2017-05-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000080734 SCV001364025 benign not specified 2019-03-04 criteria provided, single submitter clinical testing Variant summary: DMD c.6463C>T (p.Arg2155Trp) results in a non-conservative amino acid change in 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 0.026 in 199100 control chromosomes in the gnomAD database, including 80 homozygotes and 1967 hemizygotes, which is significantly over the estimated maximal expected allele frequency for a pathogenic variant in DMD causing Dystrophinopathies phenotype (0.000008824), strongly suggesting that the variant is benign. Five ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign/benign. Based on the evidence outlined above, the variant was classified as benign.

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