ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.686del (p.Arg229fs) (rs1555738686)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669713 SCV000794491 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-09-28 criteria provided, single submitter clinical testing
GeneDx RCV001009211 SCV001169030 likely pathogenic not provided 2019-01-17 criteria provided, single submitter clinical testing The c.686delG variant in the FKRP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.686delG variant causes a frameshift starting with codon Arginine 229, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Arg229ProfsX10. This variant is predicted to cause loss of normal protein function through protein truncation with the last 267 amino acids replaced with nine incorrect residues. The c.686delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.686delG as a likely pathogenic variant.

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