ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)

gnomAD frequency: 0.00024  dbSNP: rs201613746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801475 SCV000941252 likely benign Shprintzen-Goldberg syndrome 2025-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001662831 SCV001874719 uncertain significance not provided 2024-06-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002386426 SCV002694865 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000801475 SCV003823294 uncertain significance Shprintzen-Goldberg syndrome 2020-12-03 criteria provided, single submitter clinical testing

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