ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1400C>T (p.Thr467Met)

gnomAD frequency: 0.00002  dbSNP: rs752151031
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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 RCV000697378 SCV000825985 likely benign Shprintzen-Goldberg syndrome 2024-10-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000697378 SCV003823297 uncertain significance Shprintzen-Goldberg syndrome 2021-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822178 SCV005496413 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-08-28 criteria provided, single submitter clinical testing The p.T467M variant (also known as c.1400C>T), located in coding exon 4 of the SKI gene, results from a C to T substitution at nucleotide position 1400. The threonine at codon 467 is replaced by methionine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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