ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1196C>T (p.Ala399Val)

gnomAD frequency: 0.00148  dbSNP: rs141862996
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514089 SCV000250678 likely benign not provided 2020-06-16 criteria provided, single submitter clinical testing
Invitae RCV000227742 SCV000287832 likely benign Shprintzen-Goldberg syndrome 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000195594 SCV000309349 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514089 SCV000609855 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000227742 SCV000678208 uncertain significance Shprintzen-Goldberg syndrome 2017-08-01 criteria provided, single submitter clinical testing SKI NM_003036.3 exon3 p.Ala399Val (c.1196C>T): This variant has not been reported in the literature but is present in 0.4% (117/24020) of African individuals, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs141862996). This variant is present in ClinVar (Variation ID:213692). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002315616 SCV000739597 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000195594 SCV004038949 likely benign not specified 2023-08-10 criteria provided, single submitter clinical testing

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