ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) (rs121434315)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 2018-06-12 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Legius syndrome in a family (PMID: 19366998) and has also been observed in several individuals affected with Legius syndrome (PMID: 17704776, 21089071). ClinVar contains an entry for this variant (Variation ID: 1813). Loss-of-function variants in SPRED1 are known to be pathogenic (PMID: 17704776). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001886 SCV000022042 pathogenic Legius syndrome 2009-07-01 no assertion criteria provided literature only

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