ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs)

dbSNP: rs1574443257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991373 SCV001142767 likely pathogenic Schimke immuno-osseous dysplasia 2019-06-20 criteria provided, single submitter clinical testing
Invitae RCV000991373 SCV003028748 pathogenic Schimke immuno-osseous dysplasia 2022-08-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro124Serfs*11) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550).

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