ClinVar Miner

Submissions for variant NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)

gnomAD frequency: 0.00003  dbSNP: rs578222814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003128102 SCV003804265 pathogenic Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 2023-01-23 criteria provided, single submitter clinical testing
GeneDx RCV004725646 SCV005333263 likely pathogenic not provided 2023-10-31 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34163010, 37716905, 33414379)

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