ClinVar Miner

Submissions for variant NM_000937.5(POLR2A):c.1524dup (p.Leu509fs)

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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 RCV005139943 SCV005758179 pathogenic not provided 2024-07-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu509Serfs*51) in the POLR2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLR2A are known to be pathogenic (PMID: 31353023). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLR2A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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