ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4275del (p.Asp1427fs) (rs1598048941)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795080 SCV000934521 likely pathogenic Fanconi anemia 2018-12-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FANCA gene (p.Asp1427Thrfs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acids of the FANCA protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with FANCA-related conditions (PMID: 11091222). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the FANCA protein. Other variant(s) that disrupt this region (p.Pro1430Argfs*17) have been observed in individuals with FANCA-related conditions (PMID: 29098742). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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