ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)

gnomAD frequency: 0.00002  dbSNP: rs1254230359
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251572 SCV002521936 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 (rs1254230359) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251571 SCV002521937 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 (rs1254230359) in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002504399 SCV002815800 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537792 SCV003573147 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.2938G>A (p.E980K) alteration is located in exon 25 (coding exon 25) of the ABCC8 gene. This alteration results from a G to A substitution at nucleotide position 2938, causing the glutamic acid (E) at amino acid position 980 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278401 SCV001465414 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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