ClinVar Miner

Submissions for variant NC_000011.9:g.(?_3988762)_(4113028_?)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 RCV001878795 SCV002130168 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2021-06-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-12 of the STIM1 gene. The 5' boundary is likely confined to intron 1. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with STIM1-related conditions. This variant disrupts a region of the STIM1 protein in which other variant(s) (p.Ile484Argfs*21) have been determined to be pathogenic (PMID: 27066587). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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