ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.356G>A (p.Cys119Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1167972669
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003613034 SCV004562719 uncertain significance Arterial tortuosity syndrome 2023-03-29 criteria provided, single submitter clinical testing The SLC2A10 c.356G>A; p.Cys119Tyr variant (rs1167972669), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses predict that this variant is deleterious (REVEL: 0.750). Due to limited information, the clinical significance of this variant is uncertain at this time.

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