Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664840 | SCV000788858 | uncertain significance | Fanconi anemia complementation group A | 2017-01-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000664840 | SCV000896587 | uncertain significance | Fanconi anemia complementation group A | 2022-02-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001246740 | SCV001420120 | uncertain significance | Fanconi anemia | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1023 of the FANCA protein (p.Glu1023Asp). This variant is present in population databases (rs373986283, gnomAD 0.008%). This missense change has been observed in individual(s) with breast cancer (PMID: 23021409). ClinVar contains an entry for this variant (Variation ID: 550170). 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 tolerated. 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. |
Natera, |
RCV001246740 | SCV002092561 | uncertain significance | Fanconi anemia | 2020-01-02 | no assertion criteria provided | clinical testing |