ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg)

gnomAD frequency: 0.00001  dbSNP: rs976882559
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493484 SCV002784405 uncertain significance Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537807 SCV003670181 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.4450G>A (p.G1484R) alteration is located in exon 48 (coding exon 48) of the COL4A3 gene. This alteration results from a G to A substitution at nucleotide position 4450, causing the glycine (G) at amino acid position 1484 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004590295 SCV005080353 uncertain significance not provided 2024-04-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV004590295 SCV005823977 uncertain significance not provided 2024-07-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1484 of the COL4A3 protein (p.Gly1484Arg). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COL4A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 990638). 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 COL4A3 protein function with a positive predictive value of 80%. 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.
Natera, Inc. RCV001278698 SCV001465730 uncertain significance Alport syndrome 2020-11-02 no assertion criteria provided clinical testing

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