ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.797dup (p.Ala267fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002640462 SCV003518857 pathogenic Walker-Warburg congenital muscular dystrophy 2022-01-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FKRP protein in which other variant(s) (p.Ile478Thr) have been determined to be pathogenic (PMID: 16476814, 18639457, 19299310). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FKRP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala267Glyfs*123) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 229 amino acid(s) of the FKRP protein.

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