ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1146_1147+2del

dbSNP: rs1574450161
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027619 SCV001190191 likely pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001862410 SCV002297886 likely pathogenic Schimke immuno-osseous dysplasia 2023-11-20 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 6 (c.1146_1147+2del) of the SMARCAL1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). This variant has been observed in individual(s) with Schimke immunoosseous dysplasia (PMID: 15523612, 32499645). ClinVar contains an entry for this variant (Variation ID: 827736). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001862410 SCV002815737 pathogenic Schimke immuno-osseous dysplasia 2021-09-17 criteria provided, single submitter clinical testing
OMIM RCV001862410 SCV000024566 pathogenic Schimke immuno-osseous dysplasia 2004-12-01 no assertion criteria provided literature only

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