ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2910del (p.Gly972fs) (rs1278836130)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674373 SCV000799698 likely pathogenic Fanconi anemia, complementation group A 2018-04-30 criteria provided, single submitter clinical testing
GeneDx RCV001009221 SCV001169040 pathogenic not provided 2019-02-19 criteria provided, single submitter clinical testing The c.2910delA pathogenic variant in the FANCA gene has been reported previously with another FANCA variant in an individual with Fanconi anemia (Kimble et al., 2018). The c.2910delA variant causes a frameshift starting with codon Glycine 972, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Gly972AlafsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2910delA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.2910delA as a pathogenic variant.

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