ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn)

gnomAD frequency: 0.00003  dbSNP: rs779399414
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262000 SCV002542786 uncertain significance Autoinflammatory syndrome 2022-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101467 SCV003519562 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 168 of the PRF1 protein (p.Ser168Asn). This variant is present in population databases (rs779399414, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of hemophagocytic lymphohistiocytosis (PMID: 20092789, 21674762, 25233452, 29357941, 29665027, 31388699). ClinVar contains an entry for this variant (Variation ID: 1694131). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003134408 SCV003809861 uncertain significance not provided 2021-12-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475317 SCV004204173 likely pathogenic Aplastic anemia 2024-03-30 criteria provided, single submitter clinical testing

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