ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) (rs200666300)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027621 SCV001190193 likely pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
Invitae RCV001040718 SCV001204307 pathogenic Schimke immuno-osseous dysplasia 2020-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 820 of the SMARCAL1 protein (p.Arg820His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs200666300, ExAC 0.01%). This variant has been observed in individual(s) with Schimke immuno-osseous dysplasia (PMID: 11799392, 30026777). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported to affect SMARCAL1 protein function (PMID: 18805831). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269553 SCV001449617 pathogenic not provided 2016-01-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001040718 SCV001455769 pathogenic Schimke immuno-osseous dysplasia 2020-09-16 no assertion criteria provided clinical testing

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