Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596666 | SCV000703638 | uncertain significance | not provided | 2016-11-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000990742 | SCV000751565 | benign | Duchenne muscular dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000596666 | SCV000976800 | likely benign | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19937601) |
Mendelics | RCV000990742 | SCV001141773 | likely benign | Duchenne muscular dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193796 | SCV001362911 | benign | not specified | 2019-02-25 | criteria provided, single submitter | clinical testing | Variant summary: DMD c.821A>G (p.Tyr274Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00013 in 199695 control chromosomes including 11 hemizygotes. This frequency is not significantly higher than expected for a pathogenic variant in DMD causing Dystrophinopathies (0.00013 vs 0.011). c.821A>G has been reported in the literature in individuals affected with Dystrophinopathies (Flanigan_2009, Luce_2019). One of the individuals was a male who carried another pathogenic DMD variant, c.3427dupC (p.Gln1143fsX34)(Luce_2018), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submissions from clinical diagnostic laboratories (evalution after 2014) cite the variant as uncertain significance and benign. Based on the evidence outlined above, the variant was classified as benign. |
Ambry Genetics | RCV002431748 | SCV002681255 | benign | Cardiovascular phenotype | 2020-07-22 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001834876 | SCV002090469 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2018-06-11 | no assertion criteria provided | clinical testing |