ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2058C>T (p.Ala686=)

gnomAD frequency: 0.00001  dbSNP: rs1171554207
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315197 SCV000739613 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-07-21 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768315 SCV000898975 uncertain significance Shprintzen-Goldberg syndrome 2021-03-30 criteria provided, single submitter clinical testing SKI NM_003036.3 exon 7 p.Ala686Ala (c.2058C>T): This variant has not been reported in the literature but is present in 1/14928 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768315 SCV001013062 likely benign Shprintzen-Goldberg syndrome 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001577497 SCV001804886 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing

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