ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.378G>A (p.Leu126=)

dbSNP: rs2106014724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021621 SCV002315576 uncertain significance Schimke immuno-osseous dysplasia 2022-01-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 affects codon 126 of the SMARCAL1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SMARCAL1 protein.

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