ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.2656T>G (p.Ter886Gly)

dbSNP: rs1695960852
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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 RCV001040413 SCV001203988 uncertain significance Perlman syndrome 2019-12-03 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with DIS3L2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the DIS3L2 mRNA. It is expected to extend the length of the DIS3L2 protein by 23 additional amino acid residues.

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