ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys) (rs199476186)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377212 SCV001574485 likely pathogenic not provided 2020-02-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 85 of the CYP4V2 protein (p.Arg85Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Bietti crystalline corneoretinal dystrophy (PMID: 16179904, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39260). 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 C1). This variant disrupts the p.Arg85 amino acid residue in CYP4V2. Other variant(s) that disrupt this residue have been observed in individuals with CYP4V2-related conditions (PMID: 30429639), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneReviews RCV000032537 SCV000056203 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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