ClinVar Miner

Submissions for variant NM_017838.4(NHP2):c.289_290del (p.Met97fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239867 SCV001412769 uncertain significance Dyskeratosis congenita 2019-09-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NHP2 gene (p.Met97Valfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the NHP2 protein. This variant is present in population databases (rs762821341, ExAC 0.02%). This variant has not been reported in the literature in individuals with NHP2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. 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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