ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.339_340del (p.Ala114fs)

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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 RCV003839810 SCV004640083 pathogenic Fanconi anemia 2023-07-13 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 16084127, 22778927). This sequence change creates a premature translational stop signal (p.Ala114Argfs*6) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.

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