ClinVar Miner

Submissions for variant NM_001372051.1(CASP8):c.306-2006G>A

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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 RCV002937131 SCV003257355 uncertain significance Autoimmune lymphoproliferative syndrome type 2B 2021-12-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with CASP8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 102 of the CASP8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CASP8 protein. It affects a nucleotide within the consensus splice site.

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