ClinVar Miner

Submissions for variant NM_012193.4(FZD4):c.1278_1281GACA[1] (p.Asp428fs) (rs80358295)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598865 SCV000709807 pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing The c.1282_1285delGACA variant in the FZD4 gene has been reported previously in an individual with familial exudative vitreoretinopathy (Nikopoulos et al., 2010). The c.1282_1285delGACA variant causes a frameshift starting with codon Aspartic Acid 428, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Asp428SerfsX2. This variant is predicted to cause loss of normal protein function through protein truncation as the last 110 amino acids are lost and replace with one incorrect amino acid. The c.1282_1285delGACA variant is observed in 3/277,242 alleles in large population cohorts (Lek et al., 2016). We interpret c.1282_1285delGACA as a pathogenic variant.
Laboratory of Human Molecular Genetics, Department of Medical Research,Taipei Veterans General Hospital RCV000210225 SCV000266328 pathogenic Exudative retinopathy; Familial exudative vitreoretinopathy no assertion criteria provided research

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