ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1812+1G>A (rs373286166)

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Total submissions: 9
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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
GeneDx RCV000521440 SCV000616994 pathogenic not provided 2020-10-14 criteria provided, single submitter clinical testing 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); Deletions involving coding exons in this gene are frequently reported as pathogenic, regardless of frame prediction (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23871722, 25637381, 25525159, 27930565, 17259292, 32194622)
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000201160 SCV000692204 pathogenic Duchenne muscular dystrophy 2017-02-07 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000149882 SCV000692205 pathogenic Becker muscular dystrophy 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV000201160 SCV001205869 pathogenic Duchenne muscular dystrophy 2020-08-27 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, University of Washington 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

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