ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)

dbSNP: rs1554924079
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669371 SCV000794118 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2017-09-12 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251505 SCV002522248 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 (rs1554924079) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002251506 SCV002522250 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 (rs1554924079) in neonatal diabetes yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531225 SCV003440251 likely pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553845). This missense change has been observed in individual(s) with autosomal recessive diffuse hyperinsulinism (PMID: 24401662). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 727 of the ABCC8 protein (p.Leu727Arg).

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