ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) (rs1595763925)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801189 SCV000940955 pathogenic Legius syndrome 2019-10-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SPRED1 gene (p.Gly385Ilefs*20). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acids of the SPRED1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Legius syndrome (PMID: 17704776, 21089071). Other truncations (p.Cys418Alafs*6, p.Met417Ttrfs*15, p.Arg403Leufs*30) that lie downstream of this variant have been reported in individuals affected with Legius syndrome (PMID: 19920235). While experimental studies have not been performed on this particular variant, it is expected to disrupt the Sprouty domain of the SPRED1 protein which is necessary for proper function of the SPRED1 protein (PMID: 15683364). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000801189 SCV001139543 pathogenic Legius syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090730 SCV001246419 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing

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