ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10086+1G>A

dbSNP: rs398123828
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080405 SCV000112307 pathogenic not provided 2017-04-13 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196295 SCV001366875 pathogenic Dilated cardiomyopathy 3B 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in hemizygous state.
Revvity Omics, Revvity RCV000080405 SCV002022892 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003512011 SCV004299540 pathogenic Duchenne muscular dystrophy 2023-10-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 69 of the DMD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 7581396, 8589698, 19937601, 32194622). ClinVar contains an entry for this variant (Variation ID: 94422). Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (PMID: 7581396, 8589698). For these reasons, this variant has been classified as Pathogenic.

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