ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002932892 SCV003263861 pathogenic Fanconi anemia 2023-09-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2054677). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is present in population databases (rs746997654, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser995*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192).

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