ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)

gnomAD frequency: 0.00001  dbSNP: rs755577144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245917 SCV002513344 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 ( rs755577144) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245918 SCV002513345 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 ( rs755577144 ) in neonatal diabetes yet.
Fulgent Genetics, Fulgent Genetics RCV002493468 SCV002787373 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-05-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277861 SCV001464840 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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