Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV001030758 | SCV001190088 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2019-08-21 | criteria provided, single submitter | clinical testing | Only heterozygous state of c.4325A>T variant is present in the publicly available databases like 1000 Genomes, ExAC, gnomAD and dbSNP, at a low minor allele frequency (MAF <= 0.0002). However the variant is not present in our in-house exome database. This variant was also not reported earlier in OMIM, ClinVar and HGMD databases, in any affected individuals. In-silico pathogenicity prediction programs like Polyphen2, Mutation Taster2, CADD etc. predicted this variant as likely deleterious however there are contradictory predictions in few other programs. There are no existing functional studies to assess the pathogenicity of this variant. Due to lack of enough evidence the variant has been classified as uncertain significance. This patient also harbors a likely pathogenic variant in KCNJ11 gene, earlier reported by us (ClinVar Accession: VCV000694392.1). |
Clinical Genomics, |
RCV002245835 | SCV002513327 | 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 (rs562680077 ) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002245834 | SCV002513328 | 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 ( rs562680077) in MODY yet. | |
Invitae | RCV003736960 | SCV004554383 | likely benign | not provided | 2023-12-23 | criteria provided, single submitter | clinical testing |