ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1208dup (p.Arg404fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003756534 SCV004549914 pathogenic Walker-Warburg congenital muscular dystrophy 2023-04-27 criteria provided, single submitter clinical testing This variant disrupts a region of the FKRP protein in which other variant(s) (p.Il3478Thr) 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. For these reasons, this variant has been classified as Pathogenic. 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.Arg404Profs*60) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 92 amino acid(s) of the FKRP protein.
Baylor Genetics RCV004573283 SCV005057799 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-12-15 criteria provided, single submitter clinical testing

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