Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Individualized Medicine, |
RCV000190644 | SCV000245687 | likely pathogenic | not provided | 2014-01-01 | criteria provided, single submitter | research | |
Invitae | RCV001206024 | SCV001377311 | pathogenic | Fanconi anemia | 2023-07-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln498Thrfs*7) 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). This variant is present in population databases (rs761250416, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with non-obstructive azoospermia and Sertoli cell-only syndrome and it has also been observed in several individuals affected with breast and/or ovarian cancer (PMID: 26296701, 28881617, 29351780, 30075111). ClinVar contains an entry for this variant (Variation ID: 208640). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000190644 | SCV002104348 | likely pathogenic | not provided | 2023-04-26 | 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; Observed in multiple individuals with breast or ovarian cancer and may represent a founder variant in the Lithuanian population (Ellingson et al., 2015; Dicks et al., 2017; Nguyen-Dumont et al., 2018; Figlioli et al., 2020); This variant is associated with the following publications: (PMID: 26296701, 28881617, 29351780, 30075111, 31991861, 31589614, 29625052, 26689913, 34976027, 35929646, 29895858, 36835452) |
OMIM | RCV000677275 | SCV000803408 | pathogenic | Spermatogenic failure 28 | 2018-08-13 | no assertion criteria provided | literature only |