ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.37C>G (p.Gln13Glu)

dbSNP: rs766131144
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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 RCV001543114 SCV001761627 uncertain significance Fanconi anemia 2021-06-24 criteria provided, single submitter clinical testing The FANCA c.37C>G (p.Gln13Glu) missense change is absent in gnomAD v2.1.1 (PM2_Supporting; https://gnomad.broadinstitute.org/). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge 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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