Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001293431 | SCV000623435 | likely benign | Renal cell carcinoma | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000540846 | SCV001323159 | uncertain significance | Papillary renal cell carcinoma type 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Ambry Genetics | RCV002456035 | SCV002617909 | likely benign | Hereditary cancer-predisposing syndrome | 2023-10-27 | 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 |
RCV003151783 | SCV003840410 | uncertain significance | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003409759 | SCV004107100 | uncertain significance | MET-related disorder | 2023-02-01 | criteria provided, single submitter | clinical testing | The MET c.341A>T variant is predicted to result in the amino acid substitution p.Asp114Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 4 of ~281,000 alleles in gnomAD (http://gnomad.broadinstitute.org/variant/7-116339479-A-T) and is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/454240/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Baylor Genetics | RCV003459165 | SCV004192490 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 97 | 2023-10-02 | criteria provided, single submitter | clinical testing |