ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.325dup (p.Asp109fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047708 SCV001211687 pathogenic Perlman syndrome 2020-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp109Glyfs*17) in the DIS3L2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DIS3L2-related conditions. ClinVar contains an entry for this variant (Variation ID: 844772). Loss-of-function variants in DIS3L2 are known to be pathogenic (PMID: 22306653, 28328139). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001047708 SCV001483103 likely pathogenic Perlman syndrome 2020-07-30 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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