ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8391-1_8391delinsAA

dbSNP: rs1060502619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464014 SCV000550261 likely pathogenic Duchenne muscular dystrophy 2016-07-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Likely Pathogenic. This sequence change affects an acceptor splice site in intron 56 of the DMD gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This sequence change also effects the first nucleotide of exon 57. A similar variant, which is predicted to have the same effect on splicing (c.8391-1G>A) has been reported in the literature in an individual affected with Duchenne muscular dystrophy (DMD)  (PMID: 20485447). In addition, other splice site variants in DMD are known to be pathogenic (PMID: 16770791).
Fulgent Genetics, Fulgent Genetics RCV002496775 SCV002811139 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-08-20 criteria provided, single submitter clinical testing

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