ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2528+6G>C

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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 RCV002585340 SCV003491902 uncertain significance Schimke immuno-osseous dysplasia 2022-03-26 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the SMARCAL1 gene. It does not directly change the encoded amino acid sequence of the SMARCAL1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.

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