ClinVar Miner

Submissions for variant NM_001287174.2(ABCC8):c.1630+1G>T (rs773306994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411351 SCV000485965 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-03-10 criteria provided, single submitter clinical testing
Invitae RCV000816954 SCV000957484 pathogenic not provided 2018-11-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10 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 (rs773306994, ExAC 0.02%). This variant has been observed in individuals affected with congenital hyperinsulinism (PMID: 9618169, 19475716, 23275527). It is also known as IVS10+1G>T in the literature. ClinVar contains an entry for this variant (Variation ID: 370604). 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 ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). For these reasons, this variant has been classified as Pathogenic.

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