ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His)

gnomAD frequency: 0.00003  dbSNP: rs199476203
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659009 SCV000780812 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000659009 SCV001447933 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV000659009 SCV002126946 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CYP4V2 protein function. ClinVar contains an entry for this variant (Variation ID: 39254). This missense change has been observed in individual(s) with Bietti crystalline dystrophy and autosomal recessive retinitis pigmentosa (PMID: 16179904, 24480711, 28051075, 31960602). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs199476203, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 400 of the CYP4V2 protein (p.Arg400His).
GeneReviews RCV000032531 SCV000056194 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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