ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter)

dbSNP: rs758888999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386132 SCV001586258 pathogenic Schimke immuno-osseous dysplasia 2023-02-16 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Schimke immunoosseous dysplasia (PMID: 17089404, 22998683). This sequence change creates a premature translational stop signal (p.Arg334*) 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). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1073208). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001386132 SCV002076296 pathogenic Schimke immuno-osseous dysplasia 2020-05-11 no assertion criteria provided clinical testing

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