Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672784 | SCV000797925 | uncertain significance | Fanconi anemia complementation group A | 2018-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855582 | SCV002166915 | uncertain significance | Fanconi anemia | 2021-08-18 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 41 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 of the intron. This variant is present in population databases (rs374765708, ExAC 0.002%). 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: 556738). 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. |