ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.796_797delinsT (p.Ala266fs) (rs1553190048)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599100 SCV000710326 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing The c.796_797delGCinsT variant in the SKI gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.796_797delGCinsT variant causes a frameshift starting with codon Alanine 266, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Ala266SerfsX22. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.796_797delGCinsT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.796_797delGCinsT as a variant of uncertain significance.

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