ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys)

gnomAD frequency: 0.00004  dbSNP: rs768448830
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345680 SCV000345158 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002244742 SCV002515401 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 (rs768448830) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002244741 SCV002515402 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 (rs768448830) in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002487284 SCV002784370 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2024-05-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000345680 SCV005329845 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing ABCC8: PM2:Supporting, PP3, PS4:Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV000345680 SCV005811454 uncertain significance not provided 2024-07-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1205 of the ABCC8 protein (p.Glu1205Lys). This variant is present in population databases (rs768448830, gnomAD 0.005%). This missense change has been observed in individual(s) with ABCC8-related conditions (PMID: 31604004). This variant is also known as p.Glu1206Lys. ClinVar contains an entry for this variant (Variation ID: 290581). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCC8 protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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