ClinVar Miner

Submissions for variant NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala)

gnomAD frequency: 0.00001  dbSNP: rs759782468
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001650484 SCV001870341 uncertain significance Autoimmune lymphoproliferative syndrome type 2A 2020-12-22 criteria provided, single submitter research ACMG codes:PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV001650484 SCV002110992 uncertain significance Autoimmune lymphoproliferative syndrome type 2A 2024-06-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 387 of the CASP10 protein (p.Pro387Ala). This variant is present in population databases (rs759782468, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CASP10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1251933). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CASP10 protein function with a negative predictive value of 80%. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321863 SCV004026140 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing PM2_SUP
PreventionGenetics, part of Exact Sciences RCV003405740 SCV004107124 uncertain significance CASP10-related disorder 2023-03-28 criteria provided, single submitter clinical testing The CASP10 c.1159C>G variant is predicted to result in the amino acid substitution p.Pro387Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-202074029-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596477 SCV005090518 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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