ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810942 SCV000951184 likely pathogenic Walker-Warburg congenital muscular dystrophy 2018-12-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKRP gene (p.Trp432*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 64 amino acids of the FKRP protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FKRP-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the p.Ala455 amino acid residue in FKRP. Other variant(s) that disrupt this residue have been observed in individuals with FKRP-related conditions (PMID: 14652796, 16368217, 18671187, 23420653, 23894383), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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