Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001855583 | SCV002162805 | pathogenic | Fanconi anemia | 2024-08-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His1272Thrfs*6) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with fanconi anemia (PMID: 15643609, 29098742). ClinVar contains an entry for this variant (Variation ID: 556740). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000672788 | SCV002809825 | pathogenic | Fanconi anemia complementation group A | 2021-09-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000672788 | SCV004196605 | pathogenic | Fanconi anemia complementation group A | 2024-03-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004760692 | SCV005371713 | pathogenic | not provided | 2024-04-02 | 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35417938, 15643609, 29098742) |
Counsyl | RCV000672788 | SCV000797930 | pathogenic | Fanconi anemia complementation group A | 2018-02-15 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |
Leiden Open Variation Database | RCV000672788 | SCV001425998 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |