ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.806A>G (p.His269Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314464 SCV004013848 uncertain significance Lymphoma, non-Hodgkin, familial criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.003%). Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.25; 3Cnet: 0.69). Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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