ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1573G>A (p.Val525Ile) (rs141961299)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197599 SCV000250659 uncertain significance not provided 2018-11-09 criteria provided, single submitter clinical testing The V525I variant of uncertain significance in the SKI gene has not been published as pathogenic or been reported as benign to our knowledge. This variant has been identified independently of additional cardiogenetic variants in two other individuals referred for connective tissue disorder genetic testing at GeneDx; however, thus far, segregation data is limited or absent. V525I has also been observed in 6/17,506 (0.03%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016). The V525I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.

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