ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1444dup (p.Gln482fs)

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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 RCV003008332 SCV003311267 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-09-13 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FKRP gene (p.Gln482Profs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the FKRP protein and extend the protein by 3 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FKRP-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the FKRP protein in which other variant(s) (p.Tyr483Cys) have been observed in individuals with FKRP-related conditions (PMID: 33200426). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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