ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser)

gnomAD frequency: 0.00001  dbSNP: rs776036994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281287 SCV001425017 likely pathogenic Benign familial hematuria 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002480863 SCV002781600 likely pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2022-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003399024 SCV004118967 likely pathogenic COL4A4-related condition 2022-12-19 criteria provided, single submitter clinical testing The COL4A4 c.193G>A variant is predicted to result in the amino acid substitution p.Gly65Ser. This variant was reported with another Gly substitution variant in the COL4A3 gene a patient with Alport syndrome and suggested digenic inheritance (P194 in Domingo-Gallego A et al 2022. PubMed ID: 33532864). The Gly65 variant affects a Gly residue of the conserved triple helical domain (residues 65 – 1459) of the COL4A4 protein (uniprot.org). The majority of pathogenic variants in COL4A4 substitute a glycine residue to a bulkier amino acid in the triple-helical domain (Hudson et al. 1993. PubMed ID: 8253711; https://www.ncbi.nlm.nih.gov/books/NBK1207/). This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-227985864-C-T). The c.193G>A variant is interpreted as likely pathogenic for autosomal recessive COL4A4-related disorders.

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