Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Individualized Medicine, |
RCV000190642 | SCV000245685 | likely pathogenic | Fanconi anemia complementation group A | 2014-01-01 | criteria provided, single submitter | research | |
Counsyl | RCV000190642 | SCV000486569 | likely pathogenic | Fanconi anemia complementation group A | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001043860 | SCV001207627 | pathogenic | Fanconi anemia | 2024-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1339Serfs*24) 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 or breast cancer (PMID: 10521298, 26296701, 29098742). ClinVar contains an entry for this variant (Variation ID: 208638). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000190642 | SCV002022311 | pathogenic | Fanconi anemia complementation group A | 2020-10-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000190642 | SCV002811195 | pathogenic | Fanconi anemia complementation group A | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003325465 | SCV004032021 | pathogenic | not provided | 2024-01-23 | criteria provided, single submitter | clinical testing | Observed with a second variant in unrelated patients with Fanconi anemia in the published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (PMID: 10521298, 29098742); Reported in the heterozygous state in an individual with breast cancer who tested negative for pathogenic variants in the BRCA1 and BRCA2 genes (PMID: 26296701); 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: 33084842, 10521298, 29098742, 19367192, 26296701) |
St. |
RCV000190642 | SCV004171432 | pathogenic | Fanconi anemia complementation group A | 2023-11-28 | criteria provided, single submitter | clinical testing | The FANCA c.4015del (p.Leu1339SerfsTer24) change deletes one nucleotide to cause a frameshift and the creation of a premature stop codon. This change is predicted to cause protein truncation or absence of protein due to nonsense-mediated decay. This variant has been reported in individuals with Fanconi anemia (PMID: 10521298, 29098742). This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as pathogenic. |
Baylor Genetics | RCV000190642 | SCV004196045 | pathogenic | Fanconi anemia complementation group A | 2023-08-29 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000190642 | SCV001425727 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |