ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.143G>C (p.Arg48Pro)

dbSNP: rs1735998479
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343291 SCV001537261 uncertain significance not provided 2022-08-23 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 expected to disrupt CYP4V2 protein function. ClinVar contains an entry for this variant (Variation ID: 1039750). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 48 of the CYP4V2 protein (p.Arg48Pro).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815412 SCV005069371 uncertain significance Optic atrophy 2022-01-01 no assertion criteria provided clinical testing

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