ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.233C>T (p.Ala78Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004821726 SCV005496462 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-09-02 criteria provided, single submitter clinical testing The c.233C>T (p.A78V) alteration is located in exon 1 (coding exon 1) of the SKI gene. This alteration results from a C to T substitution at nucleotide position 233, causing the alanine (A) at amino acid position 78 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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