ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.642del (p.Phe214fs)

dbSNP: rs312262717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000034244 SCV000746585 pathogenic Hereditary spastic paraplegia 11 2016-11-22 criteria provided, single submitter clinical testing This variant has been previously reported (PMID: 19194956) and was found [likely] in trans with a pathogenic variant (c.2912_2914delinsGAT) in a 23-year-old female with intellectual disability and a progressive motor and cognitive decline.
GeneReviews RCV000034244 SCV000058184 not provided Hereditary spastic paraplegia 11 no assertion provided literature only

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