ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) (rs1060501878)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475930 SCV000547752 pathogenic Fanconi anemia 2016-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 661 (p.Arg661*) of the FANCA gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, 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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