Submissions for variant NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met)

gnomAD frequency: 0.22897  dbSNP: rs2108622

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PharmGKB	RCV000211318	SCV000268255	drug response	warfarin response - Dosage	2021-03-24	reviewed by expert panel	curation	PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
PharmGKB	RCV000211144	SCV000268256	drug response	acenocoumarol response - Dosage	2021-03-24	reviewed by expert panel	curation	PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510827	SCV001717968	benign	not provided	2023-05-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977584	SCV004799086	likely benign	CYP4F2-related disorder	2021-07-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).