ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.67C>T (p.Arg23Cys)

gnomAD frequency: 0.00001  dbSNP: rs753690688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223616 SCV001395772 uncertain significance Schimke immuno-osseous dysplasia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 23 of the SMARCAL1 protein (p.Arg23Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs753690688, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects SMARCAL1 function (PMID: 29802247). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001223616 SCV002076272 uncertain significance Schimke immuno-osseous dysplasia 2020-01-10 no assertion criteria provided clinical testing

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