ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.796A>G (p.Ile266Val)

gnomAD frequency: 0.00005  dbSNP: rs200824018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812070 SCV000952372 likely benign Familial hemophagocytic lymphohistiocytosis 2 2024-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537366 SCV003735302 likely benign Inborn genetic diseases 2022-02-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV003467457 SCV004206500 uncertain significance Aplastic anemia 2022-07-28 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000812070 SCV005689226 uncertain significance Familial hemophagocytic lymphohistiocytosis 2 2024-07-03 criteria provided, single submitter clinical testing The PRF1 c.796A>G (p.Ile266Val) missense change has a maximum subpopulation frequency of 0.18% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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