ClinVar Miner

Submissions for variant NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs)

dbSNP: rs1577052785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008381 SCV001168149 pathogenic not provided 2018-10-19 criteria provided, single submitter clinical testing The c.1751_1754delATCG variant in the DVL3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1751_1754delATCG variant causes a frameshift starting with codon Aspartic acid 584, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 83 of the new reading frame, denoted p.Asp584GlyfsX83. This variant is predicted to cause loss of normal protein function as the last 133 amino acids are replaced by 82 incorrect amino acids. The c.1751_1754delATCG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1751_1754delATCG as a pathogenic variant.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001353071 SCV001438005 pathogenic Autosomal dominant Robinow syndrome 3 2020-02-10 no assertion criteria provided research

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