ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1556G>A (p.Ser519Asn)

dbSNP: rs1209146448
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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 RCV001775469 SCV002012446 uncertain significance Fanconi anemia 2021-10-28 criteria provided, single submitter clinical testing The FANCG c.1556G>A (p.Ser519Asn) missense change has a maximum subpopulation frequency of 0.0062% in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/variant/9-35075004-C-T?dataset=gnomad_r2_1). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. 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.

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