ClinVar Miner

Submissions for variant NM_032977.3(CASP10):c.853C>T (p.Leu285Phe) (rs17860403)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216523 SCV001388324 uncertain significance Autoimmune lymphoproliferative syndrome, type 2A; Autoimmune lymphoproliferative syndrome type 2 2019-05-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 285 of the CASP10 protein (p.Leu285Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs17860403, ExAC 0.05%). This variant has been observed in a family affected with clinical features of autoimmune lymphoproliferative syndrome (PMID: 10412980). ClinVar contains an entry for this variant (Variation ID: 7764). This variant has been reported to affect CASP10 protein function (PMID: 10412980, 16446975, 27799292). 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.
OMIM RCV000008205 SCV000028412 pathogenic Autoimmune lymphoproliferative syndrome, type 2A 1999-07-09 no assertion criteria provided literature only
GeneReviews RCV000008205 SCV000041547 pathologic Autoimmune lymphoproliferative syndrome, type 2A 2011-09-08 no assertion criteria provided curation Converted during submission to Pathogenic.

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