ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1039del (p.Ser347fs) (rs1553200666)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498739 SCV000590461 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing The c.1039delT variant in the SKI gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1039delT variant causes a frameshift starting with codon Serine 347, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 84 of the new reading frame, denoted p.Ser347ProfsX84. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1039delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1039delT as a variant of uncertain significance.

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