ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2222+15C>A

dbSNP: rs377174421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674532 SCV000799884 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2018-05-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477510 SCV002787390 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531354 SCV003440274 likely pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the ABCC8 gene. It does not directly change the encoded amino acid sequence of the ABCC8 protein. This variant is present in population databases (rs377174421, gnomAD 0.0009%). This variant has been observed in individual(s) with autosomal recessive familial hyperinsulinism (PMID: 28442472). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 558288). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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