ClinVar Miner

Submissions for variant NM_032977.3(CASP10):c.1502C>T (p.Pro501Leu) (rs148939095)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351475 SCV000426113 likely benign Autoimmune lymphoproliferative syndrome, type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000481210 SCV000568682 uncertain significance not specified 2016-06-22 criteria provided, single submitter clinical testing The P501L variant in the CASP10 gene has been previously reported in an individual with autoimmune lymphoproliferative syndrome who also harbored a splice site variant in the TNFRSF6 gene; this individual's healthy mother also harbored the P501L variant (Cerutti et al., 2007). In vitro studies demonstrated that this variant resulted in reduced caspase-10 activity, but did not exert a dominant negative activity on wild type protein (Cerutti et al., 2007). The P501L variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties, but occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P501L as a variant of uncertain significance.
Invitae RCV000527750 SCV000644015 benign Autoimmune lymphoproliferative syndrome, type 2A; Autoimmune lymphoproliferative syndrome type 2 2020-11-12 criteria provided, single submitter clinical testing

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