Submissions for variant NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)

gnomAD frequency: 0.00006  dbSNP: rs142639587

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724461	SCV000230438	uncertain significance	not provided	2014-12-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310744	SCV000319527	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-04-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
GeneDx	RCV000178369	SCV000514671	likely benign	not specified	2017-02-23	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	RCV001087931	SCV000644159	likely benign	Arterial tortuosity syndrome	2024-01-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002310744	SCV003838259	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-03-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724461	SCV004154650	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	SLC2A10: BP4, BP7