ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.49C>T (p.Arg17Ter) (rs119473034)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004389 SCV001227026 pathogenic Schimke immuno-osseous dysplasia 2019-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg17*) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs119473034, ExAC 0.006%). This variant has been observed in individual(s) with Schimke immuno-osseous dysplasia (PMID: 11799392). 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: 4172). Loss-of-function variants in SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004389 SCV000024561 pathogenic Schimke immuno-osseous dysplasia 2002-02-01 no assertion criteria provided literature only

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