ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)

gnomAD frequency: 0.00023  dbSNP: rs372950890
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196525 SCV000250687 likely benign not provided 2020-04-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 16327884)
Labcorp Genetics (formerly Invitae), Labcorp RCV000638888 SCV000760442 likely benign Shprintzen-Goldberg syndrome 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000638888 SCV000894752 uncertain significance Shprintzen-Goldberg syndrome 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426934 SCV002730130 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-10-29 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.

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