ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.483del (p.Trp162fs)

dbSNP: rs2123045187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001882285 SCV002158946 pathogenic Arterial tortuosity syndrome 2022-05-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp162Glyfs*83) in the SLC2A10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC2A10 are known to be pathogenic (PMID: 17935213, 22488877, 23494979). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. For these reasons, this variant has been classified as Pathogenic.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150466 SCV003838916 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2021-06-24 criteria provided, single submitter clinical testing

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