ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup) (rs1553189874)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467436 SCV000550382 uncertain significance Shprintzen-Goldberg syndrome 2016-08-11 criteria provided, single submitter clinical testing This sequence change inserts 6 nucleotides in exon 1 of the SKI mRNA (c.191_196dupTGCCCG). This leads to the insertion of 2 amino acid residues in the SKI protein (p.Val64_Pro65dup) but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases (ExAC no frequency), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a SKI-related disease. In summary, this variant is a novel in-frame duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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