Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000206446 | SCV000259336 | likely benign | Renal cell carcinoma | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572349 | SCV000673757 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-22 | 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. |
Gene |
RCV001577602 | SCV001805006 | uncertain significance | not provided | 2024-02-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis 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 |
Prevention |
RCV003422109 | SCV004116857 | uncertain significance | MET-related disorder | 2023-09-03 | criteria provided, single submitter | clinical testing | The MET c.2110A>G variant is predicted to result in the amino acid substitution p.Asn704Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-116398520-A-G). In ClinVar, this variant has conflicting interpretations ranging from likely benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/219460/). 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 | RCV001577602 | SCV005622899 | uncertain significance | not provided | 2024-03-19 | criteria provided, single submitter | clinical testing |