ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1248dup (p.Thr417fs) (rs535448005)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804838 SCV000944771 pathogenic Schimke immuno-osseous dysplasia 2018-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr417Hisfs*11) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Schimke immuno-osseous dysplasia (PMID: 16840568). This variant is also known as 1248_1249insC in the literature. Loss-of-function variants in SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550). For these reasons, this variant has been classified as Pathogenic.

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