ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)

gnomAD frequency: 0.00001  dbSNP: rs768686539
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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 RCV002399215 SCV002713264 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-06-06 criteria provided, single submitter clinical testing The p.S353P variant (also known as c.1057T>C), located in coding exon 2 of the SKI gene, results from a T to C substitution at nucleotide position 1057. The serine at codon 353 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100807 SCV003290006 likely benign Shprintzen-Goldberg syndrome 2023-12-21 criteria provided, single submitter clinical testing

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