ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter)

dbSNP: rs947786901
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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 RCV001383871 SCV001583185 pathogenic Fanconi anemia 2020-06-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln767*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCA-related conditions. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.

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