Submissions for variant NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)

gnomAD frequency: 0.00128  dbSNP: rs117587497

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128126	SCV000171718	benign	not specified	2013-04-15	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.
Invitae	RCV000227382	SCV000290946	benign	Arterial tortuosity syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001171032	SCV000318105	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-03-02	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	RCV000227382	SCV000434170	uncertain significance	Arterial tortuosity syndrome	2018-01-12	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000227382	SCV000744125	likely benign	Arterial tortuosity syndrome	2017-06-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000227382	SCV000884525	benign	Arterial tortuosity syndrome	2023-10-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756646	SCV001153492	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	SLC2A10: BP4, BP7, BS2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171032	SCV001333701	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000128126	SCV001361409	likely benign	not specified	2020-12-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000227382	SCV000745581	likely benign	Arterial tortuosity syndrome	2014-12-14	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000756646	SCV001932359	likely benign	not provided		no assertion criteria provided	clinical testing