ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) (rs368593151)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591620 SCV000701292 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000591620 SCV000748229 pathogenic not provided 2018-12-04 criteria provided, single submitter clinical testing The R268X nonsense variant in the ISPD gene has been reported previously in an individual with muscle-eye-brain disease who had a second variant identified on the opposite ISPD allele (in trans) (Roscioli et al., 2012). The R268X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
OMIM RCV000024276 SCV000045567 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 2012-05-01 no assertion criteria provided literature only

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