Submissions for variant NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=)

gnomAD frequency: 0.00514  dbSNP: rs114974138

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128133	SCV000171725	benign	not specified	2013-07-25	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.
PreventionGenetics, part of Exact Sciences	RCV000128133	SCV000314735	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769677	SCV000317370	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-04-02	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000456483	SCV000560126	benign	Arterial tortuosity syndrome	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769677	SCV000901090	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000456483	SCV001303807	benign	Arterial tortuosity syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000128133	SCV001478735	likely benign	not specified	2021-01-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000456483	SCV003799536	benign	Arterial tortuosity syndrome	2023-10-16	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703414	SCV005209920	likely benign	not provided		criteria provided, single submitter	not provided