ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.645del (p.Cys216fs)

dbSNP: rs1328362747
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204375 SCV001375580 pathogenic Perlman syndrome 2023-09-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 935724). This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys216Alafs*122) in the DIS3L2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DIS3L2 are known to be pathogenic (PMID: 22306653, 28328139).
PreventionGenetics, part of Exact Sciences RCV003398929 SCV004110407 likely pathogenic DIS3L2-related disorder 2023-03-02 criteria provided, single submitter clinical testing The DIS3L2 c.645delC variant is predicted to result in a frameshift and premature protein termination (p.Cys216Alafs*122). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in DIS3L2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Baylor Genetics RCV001204375 SCV004193943 likely pathogenic Perlman syndrome 2023-03-30 criteria provided, single submitter clinical testing

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