ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3754-1G>A

dbSNP: rs1554906449
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667898 SCV000792417 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2017-06-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246132 SCV002513770 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 (rs1554906449) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002246133 SCV002513772 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 (rs1554906449) in neonatal diabetes yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV002530728 SCV003317311 likely pathogenic not provided 2022-02-20 criteria provided, single submitter clinical testing 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. 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: 552603). This variant has not been reported in the literature in individuals affected with ABCC8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 30 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 RCV004568512 SCV005058948 likely pathogenic Type 2 diabetes mellitus 2024-02-20 criteria provided, single submitter clinical testing

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