ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.2321C>A (p.Ser774Ter) (rs149425324)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524685 SCV000636845 pathogenic Schimke immuno-osseous dysplasia 2017-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser774*) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs149425324, ExAC 0.003%). This variant has been reported to co-occur on the opposite chromosome (in trans) with other SMARCAL1 variants in individuals affected with Schimke immuno-osseous dysplasia (PMID: 11799392). 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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