ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) (rs765885747)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665088 SCV000789150 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000760366 SCV000890228 likely pathogenic not provided 2018-08-15 criteria provided, single submitter clinical testing The E310X variant was initially reported in an individual with limb-girdle muscular dystrophy who harbored as second pathogenic FKRP variant (Poppe et al., 2003). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The E310X variant is predicted to cause loss of normal protein function through protein truncation, as the last 186 amino acids are lost.

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