ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)

dbSNP: rs1057516718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411306 SCV000486108 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2016-03-30 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002244849 SCV002513509 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 (rs1057516718) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002244850 SCV002513510 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 (rs1057516718) in neonatal diabetes yet.
Baylor Genetics RCV003470332 SCV004196201 pathogenic Type 2 diabetes mellitus 2023-08-23 criteria provided, single submitter clinical testing
Invitae RCV003558361 SCV004295379 pathogenic not provided 2023-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1341*) 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 autosomal recessive diffuse or focal hyperinsulinism (PMID: 23345197, 24401662). This variant is also known as c.4024C>T (p.Gln1342X). ClinVar contains an entry for this variant (Variation ID: 370722). For these reasons, this variant has been classified as Pathogenic.

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