ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter)

dbSNP: rs755557783
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386578 SCV001586841 pathogenic Legius syndrome 2020-10-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SPRED1 gene (p.Gln281*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 164 amino acid(s) of the SPRED1 protein. This variant is present in population databases (rs755557783, ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SPRED1 protein. Other variant(s) that disrupt this region (p.Ser411Tyrfs*10) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with SPRED1-related conditions.

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