ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.291-2A>G

dbSNP: rs786204695
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169506 SCV000220971 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2014-12-18 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV000802759 SCV000942602 pathogenic not provided 2023-03-21 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 189097). Disruption of this splice site has been observed in individuals with autosomal recessive diffuse hyperinsulinism (PMID: 23275527). This variant is not present in population databases (gnomAD no frequency).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254156 SCV002524093 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs786204695) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254282 SCV002524096 uncertain significance Transitory neonatal diabetes mellitus criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs786204695) in neonatal diabetes yet.
Baylor Genetics RCV004567370 SCV005057548 pathogenic Type 2 diabetes mellitus 2024-03-11 criteria provided, single submitter clinical testing
Genomics England Pilot Project, Genomics England RCV000169506 SCV001760266 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 no assertion criteria provided clinical testing

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