ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1187A>G (p.His396Arg)

gnomAD frequency: 0.00003  dbSNP: rs987527805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707073 SCV000836153 likely benign Shprintzen-Goldberg syndrome 2023-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334394 SCV002637401 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-09-02 criteria provided, single submitter clinical testing The p.H396R variant (also known as c.1187A>G), located in coding exon 3 of the SKI gene, results from an A to G substitution at nucleotide position 1187. The histidine at codon 396 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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