ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)

gnomAD frequency: 0.00001  dbSNP: rs1256505387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005005131 SCV002813943 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003399042 SCV004105825 likely pathogenic COL4A3-related disorder 2023-03-22 criteria provided, single submitter clinical testing The COL4A3 c.1468G>C variant is predicted to result in the amino acid substitution p.Gly490Arg. The p.Gly490 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, but has been reported in ClinVar as likely pathogenic by outside laboratories (https://www.ncbi.nlm.nih.gov/clinvar/variation/988108). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-228131768-G-C). This variant is interpreted as likely pathogenic.
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328060 SCV001449248 likely pathogenic Alport syndrome 2018-04-13 no assertion criteria provided clinical testing This individual is heterozygous for the c.1468G>C variant in the COL4A3 gene. The variant has not been reported in any population databases (i.e. gnomAD, ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. This variant results in substitution of one of the invariant glycine residues within the triple helical domain of the alpha 3 chain of type 4 collagen. This variant is considered to be a likely pathogenic according to the ACMG guidelines.

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