Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002523294 | SCV000544245 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001025411 | SCV001187592 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-02 | 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. |
Illumina Laboratory Services, |
RCV001098958 | SCV001255361 | benign | Hereditary leiomyomatosis and renal cell cancer | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000472774 | SCV001255363 | uncertain significance | Fumarase deficiency | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Center for Genomic Medicine, |
RCV003320643 | SCV004025214 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002523294 | SCV005411597 | uncertain significance | not provided | 2024-09-17 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002523294 | SCV005625598 | uncertain significance | not provided | 2024-03-22 | criteria provided, single submitter | clinical testing | The FH c.655G>A (p.Asp219Asn) variant has been reported in the published literature in individuals with FH deficient uterine leiomyomas (PMID: 32612247 (2020)). Additionally, the variant has been detected in a dermatofibrosarcoma protuberans FFPE specimen, which also harbored a homozygous deletion of CDKN2A and TP53 frameshift variant (PMID: 25852058 (2015)). The frequency of this variant in the general population, 0.000054 (7/129016 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. 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. |