Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000521440 | SCV000255707 | pathogenic | not provided | 2014-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000521440 | SCV000616994 | pathogenic | not provided | 2022-01-25 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Deletions involving coding exons in this gene are frequently reported as pathogenic, regardless of frame prediction (HGMD); Destroys the canonical splice donor site in intron 15, and cDNA analysis confirms that c.1812+1 G>A results in the in-frame skipping of exon 15 (Lerario et al., 2016); This variant is associated with the following publications: (PMID: 23871722, 25637381, 25525159, 27930565, 17259292, 32194622, 33726816, 33101180) |
Clinical Molecular Genetics Laboratory, |
RCV000201160 | SCV000692204 | pathogenic | Duchenne muscular dystrophy | 2017-02-07 | criteria provided, single submitter | clinical testing | |
Clinical Molecular Genetics Laboratory, |
RCV000149882 | SCV000692205 | pathogenic | Becker muscular dystrophy | 2017-02-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201160 | SCV001205869 | pathogenic | Duchenne muscular dystrophy | 2023-12-22 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 15 of the DMD gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs373286166, gnomAD 0.005%). Disruption of this splice site has been observed in individuals with Becker or Duchenne muscular dystrophy (PMID: 17259292, 19937601, 27930565, 32194622). ClinVar contains an entry for this variant (Variation ID: 162497). Studies have shown that disruption of this splice site results in skipping of exon 15, but is expected to preserve the integrity of the reading-frame (PMID: 27930565). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV000521440 | SCV001962614 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000149882 | SCV002579670 | likely pathogenic | Becker muscular dystrophy | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV000201160 | SCV002761495 | pathogenic | Duchenne muscular dystrophy | 2021-01-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483296 | SCV002777815 | pathogenic | Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B | 2022-03-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003155089 | SCV003844269 | pathogenic | Qualitative or quantitative defects of dystrophin | 2023-02-27 | criteria provided, single submitter | clinical testing | Variant summary: DMD c.1812+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: One predict the variant abolishes the canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.6e-05 in 182866 control chromosomes (gnomAD). c.1812+1G>A has been reported in the literature in individuals affected with Dystrophinopathies (example: Taylor_2007, Neri_2017, Wang_2019). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Ten clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Baylor Genetics | RCV000149882 | SCV004194010 | pathogenic | Becker muscular dystrophy | 2022-02-01 | criteria provided, single submitter | clinical testing | |
CSER _CC_NCGL, |
RCV000149882 | SCV000190163 | likely pathogenic | Becker muscular dystrophy | 2014-06-01 | no assertion criteria provided | research | |
Counsyl | RCV000149882 | SCV001132169 | likely pathogenic | Becker muscular dystrophy | 2018-12-07 | no assertion criteria provided | clinical testing | |
Counsyl | RCV000984163 | SCV001132170 | likely pathogenic | Dilated cardiomyopathy 3B | 2018-12-07 | no assertion criteria provided | clinical testing | |
Counsyl | RCV000201160 | SCV001132171 | likely pathogenic | Duchenne muscular dystrophy | 2018-12-07 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001826801 | SCV002092233 | pathogenic | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2020-10-22 | no assertion criteria provided | clinical testing |