ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)

dbSNP: rs281874713
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000021500 SCV000891275 likely pathogenic X-linked Alport syndrome 2017-12-13 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV000021500 SCV002583544 likely pathogenic X-linked Alport syndrome criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000021500 SCV002810354 likely pathogenic X-linked Alport syndrome 2022-04-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892109 SCV004713850 likely pathogenic COL4A5-related condition 2023-12-13 criteria provided, single submitter clinical testing The COL4A5 c.3347G>T variant is predicted to result in the amino acid substitution p.Gly1116Val. This variant was reported in at least one individual presenting with microhematuria (Family 53, Table S1, Bekheirnia et al 2010. PubMed ID: 20378821). This variant has not been reported in a large population database, indicating this variant is rare. The p.Gly1116 residue resides in the triple-helical region (residues 42 – 1456) of the COL4A5 protein (uniprot.org). The majority of pathogenic variants in COL4A5 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 interpreted as likely pathogenic.

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