ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)

dbSNP: rs1057516542
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411725 SCV000485848 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861369 SCV002232207 pathogenic not provided 2021-06-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ABCC8-related conditions. ClinVar contains an entry for this variant (Variation ID: 370506). This sequence change creates a premature translational stop signal (p.Thr700Hisfs*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).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251466 SCV002522271 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 (rs1057516542) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251467 SCV002522272 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 (rs1057516542) in neonatal diabetes yet.

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