ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1183C>T (p.Pro395Ser) (rs773512836)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198841 SCV000250677 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing p.Pro395Ser (P395S) CCA>TCA: c.1183 C>T in exon 3 of the SKI gene (NM_003036.3) A variant of unknown significance has been identified in the SKI gene. The P395S variant has not been published as a mutation or been reported as a benign polymorphism to our knowledge. The P395S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P395S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is poorly conserved across species and is located in an unknown functional domain. In silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, missense mutations in nearby residues have not been reported in association with SGS or SKI-related disorder. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAADV2-1

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