ClinVar Miner

Submissions for variant NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)

dbSNP: rs1684813071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003945916 SCV004764709 pathogenic POLR1B-related condition 2023-12-20 criteria provided, single submitter clinical testing The POLR1B c.3007C>T variant is predicted to result in the amino acid substitution p.Arg1003Cys. This variant has been reported as a recurrent de novo variant in several individual with Treacher Collins syndrome type 4 (Sanchez et al. 2020. PubMed ID: 31649276; Enomoto et al. 2021. PubMed ID: 34012383). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.
OMIM RCV001200057 SCV001370911 pathogenic Treacher Collins syndrome 4 2020-07-06 no assertion criteria provided literature only
GeneReviews RCV003319221 SCV004023292 not provided Treacher Collins syndrome no assertion provided literature only

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