ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.1933C>T (p.Arg645Cys) (rs119473037)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004392 SCV000820568 pathogenic Schimke immuno-osseous dysplasia 2018-04-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 645 of the SMARCAL1 protein (p.Arg645Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs119473037, ExAC 0.01%). This variant has been reported in several individuals affected with Schimke immuno-osseous dysplasia (PMID: 22998683, 11799392, 25748404). ClinVar contains an entry for this variant (Variation ID: 4175). Experimental studies have shown that this missense change alters ATPase activity and subcellular localization compared to wild-type protein (PMID: 18805831). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004392 SCV000024564 pathogenic Schimke immuno-osseous dysplasia 2002-02-01 no assertion criteria provided literature only

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