Submissions for variant NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)

gnomAD frequency: 0.00065  dbSNP: rs142106322

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000196275	SCV000250704	benign	not specified	2014-08-14	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	RCV000196275	SCV000314739	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000770706	SCV000319438	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-02-13	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	RCV000295195	SCV000434158	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.
Invitae	RCV000295195	SCV000560120	likely benign	Arterial tortuosity syndrome	2024-01-08	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770706	SCV000902183	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-06-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000295195	SCV001157521	likely benign	Arterial tortuosity syndrome	2020-07-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000196275	SCV004100119	likely benign	not specified	2023-09-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001580088	SCV004154646	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	SLC2A10: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580088	SCV001809634	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000196275	SCV001931460	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000196275	SCV001953081	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001580088	SCV001970915	likely benign	not provided		no assertion criteria provided	clinical testing