Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244123 | SCV001417323 | likely benign | Fanconi anemia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002480822 | SCV002787320 | uncertain significance | Fanconi anemia complementation group A | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230651 | SCV003928800 | uncertain significance | not specified | 2023-04-29 | criteria provided, single submitter | clinical testing | Variant summary: FANCA c.3556A>G (p.Arg1186Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.9e-05 in 246038 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in FANCA causing Fanconi Anemia (4.9e-05 vs 0.0022), allowing no conclusion about variant significance. c.3556A>G has been reported in the literature as a VUS of germline origin in settings of whole exome sequencing in at-least one individual affected with head and neck carcinomas (HNSCC) (example, Cury_2021). These report(s) do not provide unequivocal conclusions about association of the variant with Fanconi Anemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 34598035). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (VUS, n=2; Likely benign, n=1). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Natera, |
RCV001244123 | SCV002092523 | uncertain significance | Fanconi anemia | 2020-01-30 | no assertion criteria provided | clinical testing |