Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499389 | SCV000592991 | pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2015-11-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000517672 | SCV000612206 | pathogenic | not provided | 2015-09-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000517672 | SCV000931645 | pathogenic | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg998*) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive diffuse or focal hyperinsulinism (PMID: 14692646, 16357843, 17236890, 20943781). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.2995C>T, p.Arg999*. ClinVar contains an entry for this variant (Variation ID: 434053). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000517672 | SCV002018617 | pathogenic | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000517672 | SCV002577265 | pathogenic | not provided | 2022-09-26 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20943781, 25525159, 14692646, 31028937, 23275527, 14715863, 16357843, 17236890, 15562009, 28701683, 31980526) |
Baylor Genetics | RCV003464074 | SCV004197908 | pathogenic | Type 2 diabetes mellitus | 2024-03-25 | criteria provided, single submitter | clinical testing | |
Personalized Diabetes Medicine Program, |
RCV000664138 | SCV000787590 | uncertain significance | Monogenic diabetes | 2017-03-03 | flagged submission | research | ACMG Criteria:PP3 (2 predictors), BP4 (2 predictors), PVS1 (stopgain) |
Counsyl | RCV000499389 | SCV001132112 | pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2018-12-21 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001277193 | SCV001464091 | pathogenic | Hereditary hyperinsulinism | 2020-09-16 | no assertion criteria provided | clinical testing |