ClinVar Miner

Submissions for variant NM_001927.4(DES):c.735+1G>T (rs397516698)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700903 SCV000829680 likely pathogenic Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2018-05-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the DES 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 an individual affected with restrictive cardiomyopathy (PMID: 28703267). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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