ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr)

dbSNP: rs1820558146
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003399051 SCV004111737 likely pathogenic SMARCA2-related disorder 2023-02-17 criteria provided, single submitter clinical testing The SMARCA2 c.1553T>C variant is predicted to result in the amino acid substitution p.Ile518Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283797 SCV001469185 likely pathogenic Nicolaides-Baraitser syndrome 2020-05-06 no assertion criteria provided clinical testing

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