Total submissions: 9
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 | 2017-10-20 | criteria provided, single submitter | clinical testing | The c.1812+1G>A variant in the DMD gene has been reported previously in association with Becker muscular dystrophy (Taylor et al., 2007; Lerario et al., 2016). This c.1812+1 G>A variant 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). The c.1812+1G>A variant is observed in 2/86258 (0.00002%) alleles from individuals in the ExAC dataset (Lek et al., 2016). We interpret c.1812+1G>A as a pathogenic variant. |
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 | 2019-12-23 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 15 of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs373286166, ExAC 0.01%). This variant has been observed in several individuals affected with Becker muscular dystrophy (PMID: 17259292, 19937601, 27930565). ClinVar contains an entry for this variant (Variation ID: 162497). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 27930565). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. |
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 |