ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)

dbSNP: rs1554623112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680103 SCV000807544 uncertain significance Nicolaides-Baraitser syndrome 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in an 11-year-old male with global delays with regression, hypotonia, asthma
Baylor Genetics RCV001533099 SCV001748919 likely pathogenic SMARCA2-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001562725 SCV001785535 pathogenic not provided 2020-09-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25326635)

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