Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002563210 | SCV001404351 | pathogenic | not provided | 2019-07-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). This variant has not been reported in the literature in individuals with FH-related conditions. This sequence change creates a premature translational stop signal (p.Thr277Argfs*11) in the FH gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002429988 | SCV002680965 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-08 | criteria provided, single submitter | clinical testing | The c.824_827dupGAGG pathogenic mutation, located in coding exon 6 of the FH gene, results from a duplication of GAGG at nucleotide position 824, causing a translational frameshift with a predicted alternate stop codon (p.T277Rfs*11). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003142196 | SCV003806566 | pathogenic | Hereditary leiomyomatosis and renal cell cancer | 2023-01-11 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |