Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067571 | SCV001232639 | pathogenic | Fanconi anemia | 2023-03-07 | 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: 861125). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 31991861). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Lys1683Argfs*3) in the FANCM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). |
Gene |
RCV003229016 | SCV003926132 | likely pathogenic | not provided | 2023-05-12 | criteria provided, single submitter | clinical testing | 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); Observed in individual(s) with breast cancer (Figlioli et al., 2020); This variant is associated with the following publications: (PMID: 27535533, 29895858, 30075111, 31991861) |