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

dbSNP: rs1057516542

Total submissions: 4

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
Invitae	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.