Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667754 | SCV000792253 | likely pathogenic | Fanconi anemia complementation group A | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000822096 | SCV000962882 | pathogenic | Fanconi anemia | 2022-05-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552483). This premature translational stop signal has been observed in individual(s) with Fanconi anaemia (PMID: 10094191). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln703*) 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). |
Leiden Open Variation Database | RCV000667754 | SCV001425954 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |