ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.2533C>T (p.Arg845Ter)

dbSNP: rs2058867660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001257624 SCV001434434 uncertain significance Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003493834 SCV004242475 pathogenic Autism, susceptibility to, 17 2024-01-11 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_SUP,PM2_SUP
GeneDx RCV004774365 SCV005385965 pathogenic not provided 2024-04-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a region of the gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 36475376, 36035117)

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