ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1198C>T (p.Leu400Phe)

dbSNP: rs1206358847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756309 SCV001988541 likely benign not provided 2022-09-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV004822425 SCV005496457 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-11-10 criteria provided, single submitter clinical testing The p.L400F variant (also known as c.1198C>T), located in coding exon 3 of the SKI gene, results from a C to T substitution at nucleotide position 1198. The leucine at codon 400 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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