Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001327047 | SCV001518105 | uncertain significance | not provided | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 14 of the CYP4V2 protein (p.Leu14Val). 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. ClinVar contains an entry for this variant (Variation ID: 1026579). This variant has not been reported in the literature in individuals affected with CYP4V2-related conditions. This variant is present in population databases (rs763159414, gnomAD 0.02%). |
| Ambry Genetics | RCV002546208 | SCV003759750 | uncertain significance | Inborn genetic diseases | 2021-08-04 | criteria provided, single submitter | clinical testing | The c.40C>G (p.L14V) alteration is located in exon 1 (coding exon 1) of the CYP4V2 gene. This alteration results from a C to G substitution at nucleotide position 40, causing the leucine (L) at amino acid position 14 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |