ClinVar Miner

Submissions for variant NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) (rs886061427)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000312749 SCV000463447 uncertain significance Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 2016-07-27 criteria provided, single submitter clinical testing The POLR1C c.229C>T (p.Arg77Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium despite being found in a region of good sequencing coverage. Therefore, it is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive Treacher Collins syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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