ClinVar Miner

Submissions for variant NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter)

dbSNP: rs1593275599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001778661 SCV002015485 likely pathogenic not provided 2025-01-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 47 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21131976, 34136434)
OMIM RCV000024043 SCV000045334 pathogenic Treacher Collins syndrome 2 2011-01-01 no assertion criteria provided literature only

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