ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003421151 SCV004114243 likely pathogenic COL4A3-related disorder 2022-10-03 criteria provided, single submitter clinical testing The COL4A3 c.1777G>A variant is predicted to result in the amino acid substitution p.Gly593Arg. The p.Gly593 residue is located in the conserved triple helical domain, where substitutions of the glycine are usually pathogenic (UniProt residues 43-1438, Hudson et al. 1993. PubMed ID: 8253711; https://www.ncbi.nlm.nih.gov/books/NBK21582/). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005021957 SCV005649011 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-03-06 criteria provided, single submitter clinical testing

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