ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) (rs372163487)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410151 SCV000486568 likely pathogenic Fanconi anemia, complementation group A 2016-06-24 criteria provided, single submitter clinical testing
Invitae RCV001223227 SCV001395366 pathogenic Fanconi anemia 2019-05-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln271*) 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 been reported in individuals in the literature with or without another FANCA variant in individuals affected with Fanconi anemia (PMID: 15643609, 16084127, 21659346, 29098742). ClinVar contains an entry for this variant (Variation ID: 371093). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001509537 SCV001716293 pathogenic not provided 2019-07-26 criteria provided, single submitter clinical testing PVS1, PM2, PP5
GeneDx RCV001509537 SCV001757863 likely pathogenic not provided 2020-09-18 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 16084127, 25111073, 29098742, 21659346, 15643609, 25525159)
Leiden Open Variation Database RCV000410151 SCV001425777 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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