ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs)

dbSNP: rs1384878260
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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 RCV001902078 SCV002129630 pathogenic Walker-Warburg congenital muscular dystrophy 2020-11-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the FKRP protein. Other variant(s) that disrupt this region (p.Gln460*) have been determined to be pathogenic (PMID: 16476814, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with FKRP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu446Alafs*17) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 50 amino acid(s) of the FKRP protein.
Baylor Genetics RCV004571446 SCV005057797 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-12-30 criteria provided, single submitter clinical testing

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