ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)

dbSNP: rs312262762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004794351 SCV005414732 pathogenic not provided 2024-05-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 20390432)
GeneReviews RCV000034220 SCV000058158 not provided Hereditary spastic paraplegia 11 no assertion provided literature only

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