ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.650-1G>A

dbSNP: rs2063903818
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047975 SCV001211962 likely pathogenic Duchenne muscular dystrophy 2019-12-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of DMD-related muscular dystrophy (Invitae). 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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