ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr)

dbSNP: rs863224922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000196887 SCV000255471 likely pathogenic Nicolaides-Baraitser syndrome 2014-07-22 criteria provided, single submitter clinical testing
GeneDx RCV003223620 SCV003919275 pathogenic not provided 2022-10-20 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: 25326637)

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