ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)

gnomAD frequency: 0.00002  dbSNP: rs267608682
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV001824118 SCV002073761 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2022-02-05 criteria provided, single submitter clinical testing The c.3013C>T;p.(Arg1005Cys) missense variant has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 31149; PMID: 23965854; 22451160; 22036171; 21855841) - PS4_moderate. The variant is located in a mutational hot spot and/or critical and well-established functional domain (RNA_pol_Rpb1_5) - PM1. The variant is present at low allele frequencies population databases (rs267608682 – gnomAD 0.0002386%; ABraOM no frequency - - PM2_supporting. The p.(Arg1005Cys) was detected in trans with a pathogenic variant (PMID: 23965854; 22451160; 22036171; 21855841) - PM3. Pathogenic missense variant in this residue have been reported (ClinVar ID: 41246 - c.3014G>A;p.(Arg1005His)) - PM5. In summary, the currently available evidence indicates that the variant is likely pathogenic.
Invitae RCV001852565 SCV002109069 likely pathogenic not provided 2021-09-17 criteria provided, single submitter clinical testing
OMIM RCV000024145 SCV000045436 pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2011-11-11 no assertion criteria provided literature only
GeneReviews RCV000024145 SCV000055889 pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2017-05-11 no assertion criteria provided literature only

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