ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1385C>A (p.Ser462Ter)

dbSNP: rs1564723653
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680078 SCV000807518 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with another pathogenic variant in a 4-month-old male with liver failure, hepatomegaly, bilateral pleural effusions, hypertrophic cardiomyopathy, respiratory failure

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