Submissions for variant NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)

gnomAD frequency: 0.00077  dbSNP: rs148058006

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128123	SCV000171715	benign	not specified	2014-05-17	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	RCV000128123	SCV000270854	likely benign	not specified	2015-12-11	criteria provided, single submitter	clinical testing	p.Ala272Ala in exon 2 of SLC2A10: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (88/66668) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org/; dbSNP rs148058006).
Invitae	RCV000228430	SCV000290952	benign	Arterial tortuosity syndrome	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000128123	SCV000314740	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001171029	SCV000317894	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Illumina Laboratory Services, Illumina	RCV000228430	SCV000434160	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000228430	SCV000743110	likely benign	Arterial tortuosity syndrome	2017-03-17	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000228430	SCV000744123	likely benign	Arterial tortuosity syndrome	2017-06-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000228430	SCV000884526	likely benign	Arterial tortuosity syndrome	2023-07-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171029	SCV001333698	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-01-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000128123	SCV004021235	likely benign	not specified	2023-06-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003436949	SCV004154647	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	SLC2A10: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000228430	SCV000745579	likely benign	Arterial tortuosity syndrome	2014-11-19	no assertion criteria provided	clinical testing