ClinVar Miner

Submissions for variant NC_000011.9:g.(?_4076736)_(4076887_?)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 RCV001949638 SCV002244726 pathogenic Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 2023-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with STIM1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the STIM1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in STIM1 are known to be pathogenic (PMID: 19420366, 20876309).

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