ClinVar Miner

Submissions for variant NC_000021.9:g.(?_34792125)_(34892973_?)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 RCV001032955 SCV001196262 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2021-08-17 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-9 of the RUNX1 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore 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 RUNX1-related conditions. The region of the RUNX1 gene that includes exon(s) 8-9 has been determined to be clinically significant (PMID: 14504086, 15749889, 22689681, 23753029). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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