ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)

dbSNP: rs557289756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466620 SCV000550376 likely benign Shprintzen-Goldberg syndrome 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348322 SCV002654179 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-04-12 criteria provided, single submitter clinical testing The p.R402Q variant (also known as c.1205G>A), located in coding exon 3 of the SKI gene, results from a G to A substitution at nucleotide position 1205. The arginine at codon 402 is replaced by glutamine, 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.
Revvity Omics, Revvity RCV000466620 SCV004237297 uncertain significance Shprintzen-Goldberg syndrome 2023-10-27 criteria provided, single submitter clinical testing

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