Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538452 | SCV000626480 | benign | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001150741 | SCV001311830 | uncertain significance | Fanconi anemia complementation group D2 | 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. |
Genetic Services Laboratory, |
RCV001821498 | SCV002070973 | uncertain significance | not specified | 2020-02-17 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the FANCD2 gene demonstrated a sequence change, c.78A>C, in exon 3 that results in an amino acid change, p.Gln26His. This sequence change does not appear to have been previously described in patients with FANCD2-related disorders and has been described in the gnomAD database with a frequency of 0.21% in the Ashkenazi Jewish sub-population (dbSNP rs45510294). The p.Gln26His change affects a poorly conserved amino acid residue located in a domain of the FANCD2 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gln26His substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Gln26His change remains unknown at this time. |
Sema4, |
RCV000538452 | SCV002529538 | likely benign | Fanconi anemia | 2021-10-29 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV001150741 | SCV004017654 | likely benign | Fanconi anemia complementation group D2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001528593 | SCV004040089 | uncertain significance | not provided | 2023-09-30 | 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 |
Prevention |
RCV003979943 | SCV004797861 | likely benign | FANCD2-related disorder | 2023-01-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Diagnostic Laboratory, |
RCV001528593 | SCV001740566 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001528593 | SCV001798687 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001528593 | SCV001809192 | likely benign | not provided | no assertion criteria provided | clinical testing |