ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1952del (p.Gly651fs)

dbSNP: rs2544207530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018234 SCV004848902 likely pathogenic Fanconi anemia 2023-02-02 criteria provided, single submitter clinical testing The p.Gly651AspfsX10 in FANCA has not been reported in individuals with Fanconi anemia and was absent from large population databases. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 651 and leads to a premature termination codon 10 amino acids downstream. Loss of function of FANCA is an established disease mechanism for autosomal recessive Fanconi anemia. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Fanconi anemia. ACMG/AMP criteria applied: PVS1, PM2_Supporting.

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