ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.923_924del (p.Ser308fs) (rs1555392759)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543442 SCV000645828 pathogenic Legius syndrome 2019-01-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SPRED1 gene (p.Ser308Cysfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 137 amino acids of the SPRED1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in two individuals from the same family affected with neurofibromatosis type 1-like syndrome (NFLS), also known as Legius syndrome (PMID: 19920235). ClinVar contains an entry for this variant (Variation ID: 468800). A different frameshift mutation, c.1149_1152del (p.Gly385Ilefs*20), downstream of this variant has been observed in individuals and families with Legius syndrome (PMID: 17704776, 21089071), which suggests a truncation in the last exon disrupts SPRED1 function and causes disease. For these reasons, this variant has been classified as Pathogenic.

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