Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667894 | SCV000792406 | uncertain significance | Fanconi anemia complementation group A | 2017-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514635 | SCV003512687 | uncertain significance | Fanconi anemia | 2022-03-26 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1141 of the FANCA protein (p.Ala1141Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with acute lymphocytic leukemia (PMID: 26580448). ClinVar contains an entry for this variant (Variation ID: 134266). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. |
Revvity Omics, |
RCV000667894 | SCV003833897 | uncertain significance | Fanconi anemia complementation group A | 2022-02-24 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120939 | SCV000085107 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |