ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) (rs886042506)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665348 SCV000789456 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-02-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000364855 SCV000334567 pathogenic not provided 2015-08-25 criteria provided, single submitter clinical testing
Invitae RCV000812275 SCV000952584 pathogenic Walker-Warburg congenital muscular dystrophy 2018-07-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FKRP gene (p.Phe56Glyfs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 440 amino acids of the FKRP protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with FKRP-related muscular dystrophy (PMID: 11592034). ClinVar contains an entry for this variant (Variation ID: 282866). Multiple truncations that lie downstream of this variant have been determined to be pathogenic (PMID: 11592034, 12666124, 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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