ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3839dup (p.Met1280fs)

dbSNP: rs2131926804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647198 SCV001519179 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2021-01-04 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002546247 SCV003330553 pathogenic not provided 2022-03-13 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: 1027476). This variant has not been reported in the literature in individuals affected with POLR3A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met1280Ilefs*20) 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).

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