ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.58G>A (p.Ala20Thr)

dbSNP: rs1266102026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847504 SCV002104927 uncertain significance Hereditary spastic paraplegia 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV003332349 SCV004039588 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18321925, 20718791, 16826527)

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