ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.815G>A (p.Arg272Gln)

gnomAD frequency: 0.00001  dbSNP: rs1228435590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307775 SCV001497200 uncertain significance not provided 2020-03-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CYP4V2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 272 of the CYP4V2 protein (p.Arg272Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Dept Of Ophthalmology, Nagoya University RCV003888010 SCV004706586 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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