ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.2302del (p.Leu768fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003459970 SCV004193937 likely pathogenic Perlman syndrome 2023-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003459970 SCV004551272 pathogenic Perlman syndrome 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu768Trpfs*7) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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