Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Equipe Genetique des Anomalies du Developpement, |
RCV000677690 | SCV000803837 | likely pathogenic | Intellectual disability, autosomal dominant 15 | 2016-06-21 | criteria provided, single submitter | clinical testing | |
| 3billion | RCV000677690 | SCV002521770 | likely pathogenic | Intellectual disability, autosomal dominant 15 | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.79; 3Cnet: 0.98). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with SMARCB1 related disorder (ClinVar ID: VCV000559897). A different missense change at the same codon (p.Thr357Ile) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000580796). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
| Ambry Genetics | RCV002422457 | SCV002719382 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-27 | criteria provided, single submitter | clinical testing | The p.T357R variant (also known as c.1070C>G), located in coding exon 8 of the SMARCB1 gene, results from a C to G substitution at nucleotide position 1070. The threonine at codon 357 is replaced by arginine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |