ClinVar Miner

Submissions for variant NM_001372051.1(CASP8):c.306-1949_306-1947delinsC

dbSNP: rs765672355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243840 SCV001417023 pathogenic Autoimmune lymphoproliferative syndrome type 2B 2019-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val122Thrfs*31) in the CASP8 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CASP8 are known to be pathogenic (PMID: 12353035, 25814141). This variant has not been reported in the literature in individuals with CASP8-related conditions. This variant is present in population databases (rs765672355, ExAC 0.005%).

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