ClinVar Miner

Submissions for variant NM_000352.5(ABCC8):c.3753+2C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810827 SCV000951063 likely pathogenic not provided 2018-10-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 30 of the ABCC8 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 (rs760196276, ExAC 0.002%). This variant has not been reported in the literature in individuals with ABCC8-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). 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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