Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001773206 | SCV002001631 | uncertain significance | not provided | 2023-05-05 | 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; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002477990 | SCV002777959 | uncertain significance | Spermatogenic failure 28; Premature ovarian failure 15 | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003635971 | SCV004473293 | uncertain significance | Fanconi anemia | 2023-08-24 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 1315012). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs377410891, gnomAD 0.008%). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1563 of the FANCM protein (p.Ala1563Pro). |