ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.433C>T (p.Arg145Ter)

dbSNP: rs1215568155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002225979 SCV002503921 pathogenic not provided 2023-08-25 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35982160, 36863698, 35982159, 31452935)
PreventionGenetics, part of Exact Sciences RCV003903618 SCV004725664 likely pathogenic NBEA-related disorder 2023-11-03 no assertion criteria provided clinical testing The NBEA c.433C>T variant is predicted to result in premature protein termination (p.Arg145*). This variant has been reported as having arisen de novo in an individual with autism spectrum disorder (Feliciano et al. 2019. PubMed ID: 31452935). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NBEA are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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