Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723857 | SCV000202311 | uncertain significance | not provided | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723857 | SCV000235871 | likely benign | not provided | 2019-03-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30564623, 14695533) |
Laboratory for Molecular Medicine, |
RCV000212486 | SCV000271666 | uncertain significance | not specified | 2015-09-16 | criteria provided, single submitter | clinical testing | The p.Trp1670Cys variant in DMD has been identified in one individual with DMD ( Hofstra 2004). It has also been identified in 23/47847 European chromosomes, inc luding 4 hemizygotes, by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs727503828). Computational prediction tools and conserv ation analysis suggest that this variant may impact the protein, though this inf ormation is not predictive enough to determine pathogenicity. In summary, the cl inical significance of the p.Trp1670Cys variant is uncertain. |
Invitae | RCV001088504 | SCV000625912 | benign | Duchenne muscular dystrophy | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336308 | SCV002640773 | likely benign | Cardiovascular phenotype | 2018-03-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000212486 | SCV002819398 | likely benign | not specified | 2022-12-09 | criteria provided, single submitter | clinical testing | Variant summary: DMD c.5010G>T (p.Trp1670Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00021 in 183125 control chromosomes in the gnomAD database with 9 hemizygotes. The observed variant frequency is approximately 19 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 benign. c.5010G>T has been reported in at-least one gender unspecified individual affected with DMD and a non-informative genotype (example: Hofstra_2004). This report does not provide unequivocal conclusions about association of the variant with Dystrophinopathies. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as VUS (n=2) and benign /likely benign (n=3). Based on the evidence outlined above, the variant was classified as likely benign. |
Ce |
RCV000723857 | SCV004164732 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | DMD: BS2 |
Diagnostic Laboratory, |
RCV000723857 | SCV001741022 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000723857 | SCV001932643 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000723857 | SCV001976001 | likely benign | not provided | no assertion criteria provided | clinical testing |