ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.1839_1840delinsAA (p.Cys613_Gln614delinsTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003400008 SCV004112298 likely pathogenic PCLO-related disorder 2023-05-11 criteria provided, single submitter clinical testing The PCLO c.1839_1840delinsAA variant is predicted to result in premature protein termination (p.Cys613*). 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. Nonsense variants in PCLO are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Invitae RCV003679203 SCV004425674 pathogenic not provided 2023-01-05 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PCLO-related conditions. This sequence change creates a premature translational stop signal (p.Cys613*) in the PCLO gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCLO are known to be pathogenic (PMID: 25832664, 30287594).

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