ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1556G>A (p.Arg519His) (rs376322470)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196080 SCV000250658 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SKI gene. The R519H variant has not been published as pathogenic or been reported as benign to our knowledge. The R519H variant is observed at a frequency of 0.0084% (6/71,670 alleles) in individuals of European (non-Finnish) background in large population cohorts (Lek et al., 2016). The R519H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.

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