Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671370 | SCV000796339 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766448 | SCV001989075 | uncertain significance | not provided | 2019-11-29 | criteria provided, single submitter | clinical testing | In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28018462, 33410562) |
Invitae | RCV001766448 | SCV003283646 | uncertain significance | not provided | 2022-02-28 | criteria provided, single submitter | clinical testing | This sequence change affects codon 1536 of the ABCC8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABCC8 protein. This variant also falls at the last nucleotide of exon 38, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with congenital hyperinsulinism (PMID: 28018462, 33410562). This variant is also known as c.4611G>A (p.Ala1537=). ClinVar contains an entry for this variant (Variation ID: 555529). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Baylor Genetics | RCV003459624 | SCV004198545 | likely pathogenic | Type 2 diabetes mellitus | 2023-10-02 | criteria provided, single submitter | clinical testing |