ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001280866 SCV001583413 pathogenic Schimke immuno-osseous dysplasia 2020-08-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 644 of the SMARCAL1 protein (p.Arg644Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Schimke immunoosseous dysplasia (PMID: 11799392, 18805831). 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). This variant disrupts the p.Arg644 amino acid residue in SMARCAL1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28796785, 31039288). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV001280866 SCV001468211 likely pathogenic Schimke immuno-osseous dysplasia 2020-01-22 no assertion criteria provided clinical testing

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