Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003103833 | SCV000836930 | pathogenic | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the FH gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). A similar copy number variant has been observed in individual(s) with leiomyomatosis and renal cell cancer (PMID: 22382802). For these reasons, this variant has been classified as Pathogenic. |