ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) (rs764122657)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668910 SCV000793585 likely pathogenic Fanconi anemia, complementation group A 2017-08-21 criteria provided, single submitter clinical testing
Invitae RCV000556612 SCV000626221 pathogenic Fanconi anemia 2018-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr306Alafs*32) in the FANCA gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with FANCA-related disease. 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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