ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) (rs1015798796)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559415 SCV000644169 pathogenic Arterial tortuosity syndrome 2020-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr216*) in the SLC2A10 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC2A10-related conditions. Loss-of-function variants in SLC2A10 are known to be pathogenic (PMID: 17935213, 22488877, 23494979). For these reasons, this variant has been classified as Pathogenic.
Centre for Genomic and Experimental Medicine,University of Edinburgh RCV000606630 SCV000731225 pathogenic Familial thoracic aortic aneurysm and aortic dissection no assertion criteria provided research

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