ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg)

gnomAD frequency: 0.00001  dbSNP: rs1260966222
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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 RCV001307150 SCV001496548 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 15 of the COL4A3 protein (p.Pro15Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with COL4A3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002476414 SCV002786560 uncertain significance Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-03-01 criteria provided, single submitter clinical testing

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