ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1271C>T (p.Pro424Leu)

gnomAD frequency: 0.00006  dbSNP: rs764317955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486959 SCV000573384 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing The P424L variant in the SKI gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P424L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P424L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P424L as a variant of uncertain significance.
Invitae RCV000537023 SCV000637278 likely benign Shprintzen-Goldberg syndrome 2023-12-01 criteria provided, single submitter clinical testing

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