ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) (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 2019-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 229 (p.Arg229*) of 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. This particular variant has been reported in the literature in the homozygous state (PMID: 17935213, 19622975) and as a compound heterozygote (PMID: 19781076) in individuals affected with arterial tortuosity syndrome. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000202510 SCV000195648 pathogenic Arterial tortuosity syndrome 2014-09-10 no assertion criteria provided literature only

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