ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.924C>T (p.Ala308=)

gnomAD frequency: 0.00004  dbSNP: rs377173165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862476 SCV001002987 likely benign Arterial tortuosity syndrome 2022-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815485 SCV002064049 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372400 SCV002684287 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-19 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.
Fulgent Genetics, Fulgent Genetics RCV000862476 SCV002798926 likely benign Arterial tortuosity syndrome 2021-08-03 criteria provided, single submitter clinical testing

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