Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686782 | SCV000814315 | uncertain significance | Fanconi anemia | 2023-03-26 | 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: 566854). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs765227168, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 74 of the FANCM protein (p.Gly74Arg). |
Fulgent Genetics, |
RCV002485603 | SCV002789280 | uncertain significance | Spermatogenic failure 28; Premature ovarian failure 15 | 2021-12-16 | criteria provided, single submitter | clinical testing |