ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2254G>C (p.Val752Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005020723 SCV005649116 uncertain significance Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 2024-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112764 SCV005810638 uncertain significance not provided 2024-07-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 752 of the COL4A4 protein (p.Val752Leu). This variant is present in population databases (rs764295374, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. 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 COL4A4 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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