Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics, |
RCV002052025 | SCV002318412 | likely pathogenic | Neonatal diabetes mellitus | criteria provided, single submitter | clinical testing | ||
Gene |
RCV003332375 | SCV004039670 | uncertain significance | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27681997, 32418263, 32893419) |
Prevention |
RCV004538754 | SCV004724462 | likely pathogenic | ABCC8-related disorder | 2023-12-19 | no assertion criteria provided | clinical testing | The ABCC8 c.3788C>T variant is predicted to result in the amino acid substitution p.Ala1263Val. This variant has been reported in the compound heterozygous and homozygous state in individuals with neonatal diabetes mellitus (Hashimoto et al 2017. PubMed ID: 27681997; Gopi S et al 2020. PubMed ID: 32893419). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. A different substitution affecting the same amino acid (p.Ala1263Glu) has been reported in the homozygous state in two individuals with neonatal diabetes mellitus (Table S1, Flanagan et al. 2014. PubMed ID: 24411943). This variant is interpreted as likely pathogenic. |