ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2667del (p.Ser890fs) (rs1555545517)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665563 SCV000789708 likely pathogenic Fanconi anemia, complementation group A 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV001008375 SCV001168143 likely pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing The c.2667delC variant in the FANCA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2667delC variant causes a frameshift starting with codon Serine 890, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Ser890AlafsX31. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2667delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2667delC as a likely pathogenic variant.

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