ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)

gnomAD frequency: 0.00001  dbSNP: rs757877136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197175 SCV001367811 uncertain significance X-linked Alport syndrome 2019-01-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP2,BP4.
Fulgent Genetics, Fulgent Genetics RCV001197175 SCV002790752 uncertain significance X-linked Alport syndrome 2022-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094055 SCV005814480 uncertain significance not provided 2024-12-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 495 of the COL4A5 protein (p.Gln495Lys). This variant is present in population databases (rs757877136, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with COL4A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 931024). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt COL4A5 protein function with a negative predictive value of 95%. 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.

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