Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672636 | SCV000797760 | uncertain significance | Fanconi anemia complementation group A | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531319 | SCV003511408 | uncertain significance | Fanconi anemia | 2022-09-21 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 16 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 556608). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Mayo Clinic Laboratories, |
RCV003480756 | SCV004224291 | uncertain significance | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing | PM2, PVS1_moderate |