ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys)

dbSNP: rs1586660370
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001683727 SCV001905521 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001683727 SCV004034364 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28135719, 28191890, 28628100, 25533962, 32694869)
Fondazione Telethon, Telethon Institute of Genetics and Medicine RCV001029745 SCV001169155 likely pathogenic Intellectual disability no assertion criteria provided clinical testing
OMIM RCV001375920 SCV001572900 pathogenic Blepharophimosis-impaired intellectual development syndrome 2021-04-30 no assertion criteria provided literature only

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