Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669747 | SCV000794528 | likely pathogenic | Fanconi anemia complementation group A | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Johns Hopkins Genomics, |
RCV000669747 | SCV001762384 | pathogenic | Fanconi anemia complementation group A | 2021-06-21 | criteria provided, single submitter | clinical testing | FANCA c.1734_1739del (rs1400163791) is rare (<0.1%) in a large population dataset (gnomAD: 2/251378 total alleles; 0.0008%; no homozygotes) and has been reported in ClinVar(Variation ID: 554168). It has not been reported in the literature to our knowledge. This multi-nucleotide deletion results in a premature stop codon in exon 19 likely leading to nonsense-mediated decay and lack of protein production. We consider FANCA c.1734_1739del to be pathogenic. |
Invitae | RCV001861781 | SCV002122473 | pathogenic | Fanconi anemia | 2022-12-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 554168). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 29098742). This variant is present in population databases (rs757504102, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr578*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). |
Gene |
RCV002253554 | SCV002525289 | likely pathogenic | not provided | 2022-05-25 | criteria provided, single submitter | clinical testing | Identified in two unrelated individuals with Fanconi anemia with a second variant, however, phase of both sets of variants is unknown (Kimble et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29098742) |