ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.10del (p.Ser4fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002597043 SCV002943433 pathogenic Arterial tortuosity syndrome 2022-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser4Profs*17) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. This variant is not present in population databases (gnomAD no frequency).

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