ClinVar Miner

Submissions for variant NM_001372051.1(CASP8):c.983dup (p.Gln329fs)

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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 RCV002632653 SCV003504296 pathogenic Autoimmune lymphoproliferative syndrome type 2B 2023-07-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2186059). This variant has not been reported in the literature in individuals affected with CASP8-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln346Thrfs*7) in the CASP8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CASP8 are known to be pathogenic (PMID: 12353035, 25814141).

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