ClinVar Miner

Submissions for variant NM_145886.4(PIDD1):c.76G>A (p.Gly26Arg)

gnomAD frequency: 0.00001  dbSNP: rs1317011676
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555950 SCV005045028 uncertain significance Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 2023-11-21 criteria provided, single submitter clinical testing The PIDD1 c.76G>A (p.Gly26Arg) variant, to our knowledge, has not been reported in the medical literature. This variant is only observed on 3 out of 278,172 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors suggest that the variant does not impact PIDD1 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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