ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.189+1G>A (rs891323617)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674205 SCV000799503 likely pathogenic Fanconi anemia, complementation group A 2018-04-23 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000674205 SCV000898675 likely pathogenic Fanconi anemia, complementation group A 2018-03-13 criteria provided, single submitter clinical testing FANCA NM_000135.3 exon 2 c.189+1G>A: This variant has not been reported in the literature but is present in 1/14984 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant alters the consensus splice sequence (+/-1,2) which is predicted to result in an absent or abnormal protein. Loss of function variants are a known mechanism of disease for this gene (Mathew 2006 PMID:16998502). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant classified as likely pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996416 SCV001151106 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing

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