ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195425 SCV001365776 likely pathogenic Bietti crystalline corneoretinal dystrophy 2020-03-03 criteria provided, single submitter clinical testing The p.Glu168LysfsX29 variant in CYP4V2 has not been previously reported in individuals with Bietti crystalline dystrophy but has been identified in 0.01% (1/16244) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 168 and leads to a premature termination codon 29 amino acids downstream. Frameshift and other loss of function variants have been reported in individuals with Bietti crystalline dystrophy (Stenston 2017). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Bietti crystalline dystrophy. ACMG/AMP Criteria applied: PM2, PVS1.

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