Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002399402 | SCV002712315 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-09-24 | criteria provided, single submitter | clinical testing | The c.1716+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotides after coding exon 15 of the TSC2 gene. This variant has been identified in one individual with tuberous sclerosis complex (TSC) (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation. |
Gene |
RCV003332096 | SCV004040334 | likely pathogenic | not provided | 2023-03-25 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); Also known as IVS15+1G>A; This variant is associated with the following publications: (PMID: 17304050) |
Tuberous sclerosis database |
RCV000043415 | SCV000067221 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |