Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703875 | SCV000832799 | likely benign | Fanconi anemia | 2024-01-16 | criteria provided, single submitter | clinical testing | |
St. |
RCV000703875 | SCV001775512 | uncertain significance | Fanconi anemia | 2021-07-29 | criteria provided, single submitter | clinical testing | The FANCA c.3848A>G (p.Lys1283Arg) missense change has a maximum subpopulation frequency of 0.017% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/16-89806488-T-C). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4. |
St. |
RCV001274520 | SCV002525948 | uncertain significance | Fanconi anemia complementation group A | 2022-02-17 | criteria provided, single submitter | clinical testing | The FANCA c.3848A>G (p.Lys1283Arg) missense change has a maximum subpopulation frequency of 0.017% in gnomAD v2.1.1 ( https://gnomad.broadinstitute.org/variant/16-89806488-T-C ). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP4. |
Ambry Genetics | RCV002534419 | SCV003676383 | uncertain significance | Inborn genetic diseases | 2021-06-11 | criteria provided, single submitter | clinical testing | The c.3848A>G (p.K1283R) alteration is located in exon 39 (coding exon 39) of the FANCA gene. This alteration results from a A to G substitution at nucleotide position 3848, causing the lysine (K) at amino acid position 1283 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001274520 | SCV001458749 | uncertain significance | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |