ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2694+1G>A

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003062341 SCV003439577 likely pathogenic not provided 2022-01-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant is also known as c.2697+1G>A. Disruption of this splice site has been observed in individual(s) with ABCC8-related conditions (PMID: 23275527). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 22 of the ABCC8 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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).
Baylor Genetics RCV003459723 SCV004195429 pathogenic Type 2 diabetes mellitus 2023-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005045196 SCV005676326 pathogenic Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-06-22 criteria provided, single submitter clinical testing

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