ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.180C>T (p.Leu60=)

gnomAD frequency: 0.00001  dbSNP: rs371988251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506440 SCV000605161 likely benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Invitae RCV001491029 SCV001695609 likely benign Arterial tortuosity syndrome 2021-04-09 criteria provided, single submitter clinical testing
GeneDx RCV001764507 SCV001988720 likely benign not provided 2021-10-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics RCV003302745 SCV003999285 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-04-07 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.

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