Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000680823 | SCV000808270 | likely pathogenic | not provided | 2019-08-02 | criteria provided, single submitter | clinical testing | In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; No data available from control populations to assess the frequency of this variant; Published functional studies demonstrate a damaging effect: RNA studies showed a truncated transcript (Duat Rodriguez 2015); This variant is associated with the following publications: (PMID: 25541118) |
| Ce |
RCV000680823 | SCV001747861 | uncertain significance | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004559343 | SCV005047797 | likely pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-11-27 | criteria provided, single submitter | clinical testing | The c.3974+260T>G intronic variant results from a T to G substitution 260 nucleotides after coding exon 29 in the NF1 gene. This alteration has been reported in a child with a clinical or genetic diagnosis of neurofibromatosis type 1 (Duat Rodríguez A et al. An Pediatr (Barc), 2015 Sep;83:173-82). This nucleotide position is conserved on limited sequence alignment. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration results in multiple abnormal transcripts (Duat Rodríguez A et al. An Pediatr (Barc), 2015 Sep;83:173-82; Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic. |