ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.514del (p.Ala172fs) (rs1565869918)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unit of Genetics and Genomics of Neuromuscular Diseases,Principe Felipe Research Center RCV000782173 SCV000854649 pathogenic Charcot-Marie-Tooth disease, type 4H 2018-11-30 no assertion criteria provided clinical testing The variant NM_139241.2:c.514delG is predicted to generate a truncated protein (p.A172Gfs*28), and it has been identified in compound heterozygosity with a second frameshift variant (p.A738Sfs*5).

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