ClinVar Miner

Submissions for variant NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter)

dbSNP: rs1224174574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biological Sciences, International Islamic University, Islamabad RCV001195079 SCV001250886 pathogenic Intellectual disability 2016-05-12 no assertion criteria provided clinical testing Component of the DNA damage/stress response pathway that functions downstream of p53/TP53 and can either promote cell survival or apoptosis. Associated with CRADD and the CASP2 caspase, it forms the PIDDosome a complex that activates CASP2 and triggers apoptosis.
OMIM RCV002249778 SCV002520441 pathogenic Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 2022-04-20 no assertion criteria provided literature only

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