ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)

dbSNP: rs1554933565
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674705 SCV000800091 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2018-05-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816682 SCV002067529 pathogenic not provided 2020-08-07 criteria provided, single submitter clinical testing This sequence change is a two base pair deletion in exon 9, c.1347_1348del. This sequence change results in an amino acid frameshift and creates a premature stop codon 43 amino acids downstream of the change, p.Ile450Serfs*44. This sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated ABCC8 protein with potentially abnormal function. This sequence change is absent from the large population databases such as ExAC and gnomAD. This sequence change has previously been described in a Diazoxide-responsive patient with CHI (PMID: 16429405).
Invitae RCV001816682 SCV002108012 pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile450Serfs*44) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ABCC8-related conditions (PMID: 16429405). ClinVar contains an entry for this variant (Variation ID: 558438). For these reasons, this variant has been classified as Pathogenic.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002253561 SCV002522427 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 (rs1554933565) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002253562 SCV002522428 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 (rs1554933565) in neonatal diabetes yet.

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