ClinVar Miner

Submissions for variant NM_006186.4(NR4A2):c.325dup (p.Gln109fs)

dbSNP: rs774629025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266179 SCV001444351 pathogenic Inborn genetic diseases 2021-01-15 criteria provided, single submitter clinical testing The c.325dupC (p.Q109Pfs*3) alteration, located in exon 3 (coding exon 1) of the NR4A2 gene, consists of a duplication of C at position 325, causing a translational frameshift with a predicted alternate stop codon after 3 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD) database, the NR4A2 c.325dupC alteration was observed in 0.0004% (1/250,966) of total alleles studied. Based on the available evidence, this alteration is classified as pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001724280 SCV001950012 pathogenic Neurodevelopmental disorder 2021-11-23 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PS2, PS4_SUP, PM2_SUP
GeneDx RCV002275338 SCV002562512 pathogenic not provided 2023-11-12 criteria provided, single submitter clinical testing Frameshift 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: 32366965)
OMIM RCV002260695 SCV002540594 pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 2022-06-22 no assertion criteria provided literature only

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