ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1130G>A (p.Cys377Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003231693 SCV003929668 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a patient with hemophagocytic lymphohistiocytosis in published literature (Chinello et al., 2020); This variant is associated with the following publications: (PMID: 31934312, 30104219, 29152263)
Baylor Genetics RCV004572887 SCV005052450 likely pathogenic Aplastic anemia 2024-03-24 criteria provided, single submitter clinical testing

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