ClinVar Miner

Submissions for variant NM_022762.5(RMND5B):c.*1748_*1755dup (rs755460344)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694524 SCV000822974 uncertain significance Dyskeratosis congenita 2018-01-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NHP2 gene (p.His132Glnfs*30). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acids of the NHP2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with NHP2-related disease. 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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