ClinVar Miner

Submissions for variant NC_000002.11:g.(?_217311721)_(217311901_?)del

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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 RCV003116690 SCV003792898 likely pathogenic Schimke immuno-osseous dysplasia 2022-02-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 11 of the SMARCAL1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. This variant disrupts the p.Ser579 amino acid residue in SMARCAL1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11799392, 22998683). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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