Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803976 | SCV000943865 | uncertain significance | Fanconi anemia | 2021-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 10 of the FANCA protein (p.Ala10Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Illumina Laboratory Services, |
RCV001120660 | SCV001279160 | uncertain significance | Fanconi anemia complementation group A | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Fulgent Genetics, |
RCV001120660 | SCV002787786 | uncertain significance | Fanconi anemia complementation group A | 2021-12-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000803976 | SCV002093162 | uncertain significance | Fanconi anemia | 2020-03-15 | no assertion criteria provided | clinical testing |