Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001046987 | SCV001210914 | pathogenic | Fanconi anemia | 2023-12-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp539Thrfs*66) 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). This variant is present in population databases (rs778507965, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798, 10094191). ClinVar contains an entry for this variant (Variation ID: 3443). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000003612 | SCV003821948 | pathogenic | Fanconi anemia complementation group A | 2022-04-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003228892 | SCV003925998 | pathogenic | not provided | 2022-11-21 | criteria provided, single submitter | clinical testing | Frameshift 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; This variant is associated with the following publications: (PMID: 9371798, 34153142, 26701949, Aslan2022[Article], 10094191) |
Baylor Genetics | RCV000003612 | SCV004195984 | pathogenic | Fanconi anemia complementation group A | 2023-10-30 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003612 | SCV000023770 | pathogenic | Fanconi anemia complementation group A | 1999-08-01 | no assertion criteria provided | literature only | |
Leiden Open Variation Database | RCV000003612 | SCV001426063 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Natera, |
RCV001046987 | SCV002095025 | pathogenic | Fanconi anemia | 2021-03-11 | no assertion criteria provided | clinical testing |