ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)

gnomAD frequency: 0.00001  dbSNP: rs1287727763
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002243300 SCV002512807 likely pathogenic not provided 2022-04-19 criteria provided, single submitter clinical testing Observed in probands with developmental delay (Faundes V et al., 2018); 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30217758, 28135719, 31785789, 29276005)
Genomics England Pilot Project, Genomics England RCV001542642 SCV001760005 likely pathogenic Intellectual disability, autosomal recessive 65 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004728767 SCV005340700 likely pathogenic KDM5B-related disorder 2024-04-12 no assertion criteria provided clinical testing The KDM5B c.2251C>T variant is predicted to result in premature protein termination (p.Arg751*). This variant has been repeatedly reported as de novo in individuals with intellectual disability and developmental delay phenotypes (Table S5, Faundes et al. 2018. PubMed ID: 29276005; Table S2, Turner et al. 2019. PubMed ID: 31785789). This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD. Nonsense variants in KDM5B are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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