ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2319dup (p.His774fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337915 SCV004048341 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 criteria provided, single submitter clinical testing The frame shift c.2319dup (p.His774ThrfsTer7) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.His774ThrfsTer7 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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