ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1357G>A (p.Val453Met)

gnomAD frequency: 0.00016  dbSNP: rs141864315
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000880840 SCV001023964 likely benign Familial hemophagocytic lymphohistiocytosis 2 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000880840 SCV001260919 likely benign Familial hemophagocytic lymphohistiocytosis 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261235 SCV002542771 likely benign Autoinflammatory syndrome 2022-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539298 SCV003682068 likely benign Inborn genetic diseases 2021-12-13 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.
PreventionGenetics, part of Exact Sciences RCV003955816 SCV004770798 benign PRF1-related disorder 2020-07-11 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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