Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680102 | SCV000807543 | uncertain significance | Fanconi anemia complementation group P | 2017-09-01 | criteria provided, single submitter | clinical testing | Possible pathogenicity based on finding it once in our laboratory in trans with another variant in an 8-year-old female with limb reduction defects, mild malar hypoplasia, retrognathia, bluish slerae, mild language delay |
Invitae | RCV000820136 | SCV000960832 | uncertain significance | Fanconi anemia | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1046 of the SLX4 protein (p.Arg1046Cys). This variant is present in population databases (rs140529288, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 561112). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Sema4, |
RCV000820136 | SCV002529319 | uncertain significance | Fanconi anemia | 2021-05-18 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV000680102 | SCV002779553 | uncertain significance | Fanconi anemia complementation group P | 2022-04-08 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000680102 | SCV003823924 | uncertain significance | Fanconi anemia complementation group P | 2019-09-07 | criteria provided, single submitter | clinical testing |