ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.2417_2418del (p.His806fs)

dbSNP: rs1559220906
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687958 SCV000815553 uncertain significance Perlman syndrome 2018-06-24 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with DIS3L2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the DIS3L2 gene (p.His806Leufs*17). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 80 amino acids of the DIS3L2 protein.

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