ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.334_340dup (p.Arg114fs)

dbSNP: rs1693556617
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210892 SCV001382402 pathogenic Schimke immuno-osseous dysplasia 2019-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550). This variant has been observed in an individual affected with Schimke immunoosseous dysplasia (PMID: 17089404). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg114Glnfs*4) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product.

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