Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000350778 | SCV000751823 | uncertain significance | Fanconi anemia | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 166 of the FANCM protein (p.Ala166Thr). This variant is present in population databases (rs369365858, gnomAD 0.006%). This missense change has been observed in individual(s) with head and neck carcinoma (PMID: 2867840). ClinVar contains an entry for this variant (Variation ID: 313191). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV002461070 | SCV002756537 | uncertain significance | not provided | 2022-11-09 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with squamous cell carcinoma of the oral cavity (Chandrasekharappa et al., 2017); This variant is associated with the following publications: (PMID: 28678401) |
Fulgent Genetics, |
RCV002502227 | SCV002806230 | uncertain significance | Spermatogenic failure 28; Premature ovarian failure 15 | 2022-05-25 | criteria provided, single submitter | clinical testing |