Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218962 | SCV000271668 | uncertain significance | not specified | 2015-03-19 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Glu1826Gln va riant in DMD has not been previously reported in individuals with cardiomyopathy or muscular dystrophy, but has been identified in 0.27% (23/8401) of African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs140913030). Computational prediction tools and conservation analysi s do not provide strong support for or against an impact to the protein, althoug h 2 birds (scarlet macaw and rock pigeon) carry a glutamine (Gln) at this positi on, raising the possibility that this change may be tolerated. In summary, whil e the clinical significance of the p.Glu1826Gln variant is uncertain, its freque ncy and the presence of the variant amino acid in other species suggests that it is more likely to be benign. |
Labcorp Genetics |
RCV001087654 | SCV000288058 | likely benign | Duchenne muscular dystrophy | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000218962 | SCV000341589 | benign | not specified | 2016-04-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756029 | SCV000883734 | benign | not provided | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000756029 | SCV001863660 | benign | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347839 | SCV002651207 | benign | Cardiovascular phenotype | 2019-04-25 | 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. |
Ce |
RCV000756029 | SCV004164726 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | DMD: BS1 |
Prevention |
RCV004532754 | SCV004731399 | likely benign | DMD-related disorder | 2019-02-21 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |