ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.15_24dup (p.Gly9fs) (rs1553189805)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657530 SCV000779266 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing The c.15_24dup10 variant in the SKI gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.15_24dup10 variant causes a frameshift starting with codon Glycine 9, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 224 of the new reading frame, denoted p.Gly9ArgfsX224. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.15_24dup10 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.15_24dup10 as a variant of uncertain significance, which may be related to the developmental delay and mild dysmorphic features reported in this individual.

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