ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)

dbSNP: rs940187828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665549 SCV000789691 likely pathogenic Fanconi anemia complementation group A 2017-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001229363 SCV001401806 pathogenic Fanconi anemia 2024-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1416*) in the FANCA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acid(s) of the FANCA protein. 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: 550725). This variant disrupts a region of the FANCA protein in which other variant(s) (p.Asp1427Thrfs*6) have been determined to be pathogenic (PMID: 11091222). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000665549 SCV004195999 likely pathogenic Fanconi anemia complementation group A 2023-10-20 criteria provided, single submitter clinical testing

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