Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000228181 | SCV000286138 | likely benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000561121 | SCV000664041 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Genome- |
RCV001808649 | SCV002057984 | likely benign | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003390988 | SCV004120610 | uncertain significance | SMARCA4-related disorder | 2023-06-14 | criteria provided, single submitter | clinical testing | The SMARCA4 c.715G>A variant is predicted to result in the amino acid substitution p.Gly239Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.036% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-11097224-G-A), which is likely too common for an undocumented disease-causing variant. In ClinVar, this variant is interpreted as likely benign (https://www.ncbi.nlm.nih.gov/clinvar/variation/238514/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477813 | SCV004221247 | uncertain significance | not provided | 2022-11-17 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00036 (8/22456 chromosomes in South Asian subpopulation, http://gnomad.broadinstitute.org), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |