ClinVar Miner

Submissions for variant NC_000011.9:g.(?_532636)_(533328_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001938968 SCV002204057 uncertain significance Costello syndrome 2021-07-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HRAS-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the HRAS gene. The 5' boundary is likely confined to intron 4. 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. 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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