ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1288+1G>A (rs112224037)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792330 SCV000931618 likely pathogenic Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2018-09-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the DES 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 (rs112224037, ExAC 0.01%). This variant has not been reported in the literature in individuals with DES-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DES are known to be pathogenic (PMID: 23575897). 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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