ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.194T>C (p.Leu65Pro)

gnomAD frequency: 0.00001  dbSNP: rs778598903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073864 SCV001239428 uncertain significance Retinal dystrophy 2018-07-16 criteria provided, single submitter clinical testing
Invitae RCV001862520 SCV002272634 uncertain significance not provided 2021-03-08 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. 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 not expected to disrupt CYP4V2 protein function. This variant has been observed in individual(s) with Bietti crystalline dystrophy (external communication). ClinVar contains an entry for this variant (Variation ID: 866106). This variant is present in population databases (rs778598903, ExAC 0.01%). This sequence change replaces leucine with proline at codon 65 of the CYP4V2 protein (p.Leu65Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline.

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