ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3013del (p.Arg1005fs)

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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 RCV005197960 SCV005833700 pathogenic not provided 2024-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1005Alafs*7) in the POLR3A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLR3A are known to be pathogenic (PMID: 21855841, 25339210, 27612211, 30414627, 30450527). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with POLR3A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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