ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.982C>G (p.Pro328Ala)

dbSNP: rs2100916031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002376859 SCV002689245 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-30 criteria provided, single submitter clinical testing The p.P328A variant (also known as c.982C>G), located in coding exon 2 of the SKI gene, results from a C to G substitution at nucleotide position 982. The proline at codon 328 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002463205 SCV002757213 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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