ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)

gnomAD frequency: 0.00011  dbSNP: rs544709718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310889 SCV000319389 benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000474123 SCV000550377 likely benign Shprintzen-Goldberg syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001711845 SCV000620001 likely benign not provided 2019-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000474123 SCV000894750 uncertain significance Shprintzen-Goldberg syndrome 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711845 SCV004127965 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SKI: BP4

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