ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1048G>A (p.Asp350Asn)

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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 RCV004821734 SCV005496472 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-12-03 criteria provided, single submitter clinical testing The c.1048G>A (p.D350N) alteration is located in exon 2 (coding exon 2) of the SKI gene. This alteration results from a G to A substitution at nucleotide position 1048, causing the aspartic acid (D) at amino acid position 350 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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