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
Invitae 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 2024-01-22 criteria provided, single submitter clinical testing The c.1205G>A (p.R402Q) alteration is located in exon 3 (coding exon 3) of the SKI gene. This alteration results from a G to A substitution at nucleotide position 1205, causing the arginine (R) at amino acid position 402 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, 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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