ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)

dbSNP: rs2048669411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Research, The Children's Hospital at Westmead RCV001089499 SCV001244744 likely pathogenic Developmental and epileptic encephalopathy, 1 criteria provided, single submitter research
Athena Diagnostics RCV002505668 SCV002817240 likely pathogenic not provided 2021-10-15 criteria provided, single submitter clinical testing This variant has been identified in at least one individual with clinical features associated with this gene and appears to segregate with disease in at least one family (PMID: 31164858, 32313153). This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant is located in a region that is considered important for protein function and/or structure (PMID: 20300201). Computational tools yielded predictions that this amino acid change may be damaging to the protein.This observation is not an independent occurrence and has been identified in the same individual by RCIGM, the other laboratory participating in the GEMINI study.
GeneDx RCV002505668 SCV002817847 likely pathogenic not provided 2022-12-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32313153, 20300201, 31164858)

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