ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln) (rs267607071)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004395 SCV000957039 pathogenic Schimke immuno-osseous dysplasia 2020-09-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 764 of the SMARCAL1 protein (p.Arg764Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs267607071, ExAC 0.01%). This variant has been observed in individual(s) with Schimke immuno-osseous dysplasia (PMID: 11799392, 22998683). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 4178). This variant has been reported to affect SMARCAL1 protein function (PMID: 18974355, 18805831, 19793864, 23671665, 26089390). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004395 SCV000024567 pathogenic Schimke immuno-osseous dysplasia 2009-10-15 no assertion criteria provided literature only

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