Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001233984 | SCV001406606 | pathogenic | Fanconi anemia | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1917Leufs*2) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 960456). For these reasons, this variant has been classified as Pathogenic. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004998754 | SCV005626335 | likely pathogenic | not provided | 2024-12-07 | criteria provided, single submitter | clinical testing | The FANCM c.5749_5750del (p.Ser1917Leufs*2) variant has been reported in the published literature in an individual with breast cancer (PMID: 37444426 (2023)). The frequency of this variant in the general population, 0.000019 (1/51936 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, this variant is classified as likely pathogenic for autosomal recessive FANCM-related disorders, and of uncertain significance for autosomal dominant cancer risk. |
Gene |
RCV004998754 | SCV005685771 | likely pathogenic | not provided | 2024-07-22 | 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 (PMID: 37444426); This variant is associated with the following publications: (PMID: 37444426) |