ClinVar Miner

Submissions for variant NM_001382508.1(DROSHA):c.811C>T (p.Arg271Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Precision Oncology and Cancer Prevention, Roswell Park Comprehensive Cancer Center RCV005052104 SCV005442816 pathogenic Pineoblastoma 2024-11-22 no assertion criteria provided clinical testing Variant was classified as pathogenic with SIFT, Polyphen2, MutationTaster, and LRT. It is characterized as the first-hit in a two-hit mechanism of pineoblastoma. This variant was also found in a cousin of the proband who also had pineoblastoma. The mothers of each cousin also carried a germline variant, but did not develop any reported cancer.

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