Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001094249 | SCV000399823 | uncertain significance | Fanconi anemia complementation group A | 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. |
Gene |
RCV000484383 | SCV000573678 | uncertain significance | not provided | 2021-10-04 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000287104 | SCV000626189 | likely benign | Fanconi anemia | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000484383 | SCV001715180 | uncertain significance | not provided | 2020-01-19 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000484383 | SCV002010181 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000287104 | SCV002535013 | uncertain significance | Fanconi anemia | 2021-11-15 | criteria provided, single submitter | curation | |
Prevention |
RCV003912330 | SCV004730980 | uncertain significance | FANCA-related condition | 2024-02-17 | criteria provided, single submitter | clinical testing | The FANCA c.3551G>C variant is predicted to result in the amino acid substitution p.Arg1184Pro. This variant has been reported in multiple individuals with ovarian cancer; however, it was also been documented in controls (Table S6 - Song et al. 2020. PubMed ID: 32546565). This variant is reported in 0.033% of alleles in individuals of South Asian descent in gnomAD and has conflicting interpretations in ClinVar including likely benign and uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/321335/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001094249 | SCV001462873 | uncertain significance | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |