ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)

dbSNP: rs121434315
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000001886 SCV000782323 pathogenic Legius syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000001886 SCV000833323 pathogenic Legius syndrome 2023-08-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Legius syndrome (PMID: 19366998). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1813). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg64*) in the SPRED1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPRED1 are known to be pathogenic (PMID: 17704776).
GeneDx RCV003320544 SCV004025244 pathogenic not provided 2023-08-08 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: 17704776, 21089071, 19366998, 27322474, 32005694)
OMIM RCV000001886 SCV000022042 pathogenic Legius syndrome 2009-07-01 no assertion criteria provided literature only

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