ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter)

dbSNP: rs1259291325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001935374 SCV002185159 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2022-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRF1 protein in which other variant(s) (p.Gly317Arg) have been determined to be pathogenic (PMID: 12716377, 17525286, 19487666, 32542393). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1406224). This premature translational stop signal has been observed in individual(s) with hemophagiocytic lymphohistiocytosis (PMID: 18799942). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser301*) in the PRF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 255 amino acid(s) of the PRF1 protein.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261417 SCV002542805 likely pathogenic Autoinflammatory syndrome 2017-01-30 criteria provided, single submitter clinical testing

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