Submissions for variant NM_003036.4(SKI):c.185C>G (p.Ala62Gly)

gnomAD frequency: 0.05253  dbSNP: rs28384811

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128047	SCV000171638	benign	not specified	2014-05-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000128047	SCV000269830	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Ala62Gly in exon 1 of SKI: This variant is not expected to have clinical signifi cance because it has been identified in 10.6% (14/132) of Mexican chromosomes fr om a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/p rojects/SNP; dbSNP rs28384811).
PreventionGenetics, part of Exact Sciences	RCV000128047	SCV000309357	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755630	SCV000605112	benign	Shprintzen-Goldberg syndrome	2023-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312933	SCV000738302	benign	Familial thoracic aortic aneurysm and aortic dissection	2014-12-30	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000755630	SCV001730691	benign	Shprintzen-Goldberg syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000755630	SCV001763282	benign	Shprintzen-Goldberg syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000128047	SCV003929311	likely benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572832	SCV001797825	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000128047	SCV001809425	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001572832	SCV001926804	likely benign	not provided		no assertion criteria provided	clinical testing