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

gnomAD frequency: 0.00001  dbSNP: rs1171554207

Total submissions: 4

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.
Labcorp Genetics (formerly Invitae), Labcorp	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