ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) (rs768849283)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000663339 SCV000778446 likely pathogenic Familial hemophagocytic lymphohistiocytosis 2 2017-11-01 no assertion criteria provided clinical testing The observed variant c.386G>C(p.W129S) is not reported in 1000 Genomes and has a minor allele frequency of 0.00006618 in ExAc Database. The in silico prediction of the variant is Disease-causing by mutation taster and tolerated by SIFT and probably damaging by Polyphen-2.

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