ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3548G>C (p.Cys1183Ser)

dbSNP: rs2143088016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001526804 SCV001737438 uncertain significance Fanconi anemia 2021-02-11 criteria provided, single submitter clinical testing The FANCA c.3548G>C (p.Cys1183Ser) missense change is absent in gnomAD v2.1.1 (PM2_Supporting; https://gnomad.broadinstitute.org/). Seven of seven in silico tools predict a benign effect of this variant on protein function (BP4), but these predictions have not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_Supporting, BP4.

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