ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.808_812del (p.Gly270fs)

dbSNP: rs2132476381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949278 SCV002247151 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2025-01-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly270Hisfs*9) in the PRF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 286 amino acid(s) of the PRF1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with suspected mitochondrial disorder (PMID: 27290639). ClinVar contains an entry for this variant (Variation ID: 1457555). This variant disrupts a region of the PRF1 protein in which other variant(s) (p.Arg390*) have been determined to be pathogenic (PMID: 17601962, 21152410, 29357941; internal data). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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