ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu)

dbSNP: rs281875188
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001533103 SCV001748923 pathogenic SMARCA2-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000059666 SCV001875148 pathogenic not provided 2022-09-06 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect (severe growth defect of yeast growth compared to wild type strain) (Cappuccio et al., 2020); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31288860, 32694869, 22366787, 35811451)
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000022916 SCV002764896 pathogenic Nicolaides-Baraitser syndrome 2022-07-26 criteria provided, single submitter clinical testing
Invitae RCV000059666 SCV004295973 pathogenic not provided 2022-11-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SMARCA2 function (PMID: 32694869). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SMARCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 30016). This missense change has been observed in individual(s) with Nicolaides-Baraitser syndrome (PMID: 22366787). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 883 of the SMARCA2 protein (p.Pro883Leu).
OMIM RCV000022916 SCV000044207 pathogenic Nicolaides-Baraitser syndrome 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059666 SCV000091236 not provided not provided no assertion provided not provided

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