ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) (rs1290836394)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559625 SCV000630836 pathogenic Walker-Warburg congenital muscular dystrophy 2017-03-28 criteria provided, single submitter clinical testing This sequence change inserts 5 nucleotide in exon 4 of the FKRP mRNA (c.158_162dupTGCGG), causing a frameshift at codon 55. This creates a premature translational stop signal in the last exon of the FKRP mRNA (p.Glu55Cysfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 441 amino acids of the FKRP protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FKRP-related disease. Multiple different truncations downstream of this variant have been reported in affected individuals (PMID: 12666124, 11592034, 16476814). This suggests that deletion of this region of the FKRP protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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