Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557029 | SCV000626138 | pathogenic | Fanconi anemia | 2019-06-13 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 21 of the FANCA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in several individuals affected with Fanconi anemia (PMID: 21659346, 22778927). This variant is also known as c.1827-?_1900+?del and ex21del in the literature. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic. |