ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)

gnomAD frequency: 0.00001  dbSNP: rs756457861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248625 SCV000318873 pathogenic Cardiovascular phenotype 2013-06-24 criteria provided, single submitter clinical testing
Invitae RCV000202510 SCV000549138 pathogenic Arterial tortuosity syndrome 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg229*) 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 present in population databases (rs756457861, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with arterial tortuosity syndrome (PMID: 17935213, 19622975, 19781076). ClinVar contains an entry for this variant (Variation ID: 161096). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000202510 SCV000195648 not provided Arterial tortuosity syndrome no assertion provided literature only

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