ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3851G>A (p.Gly1284Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004531559 SCV004104864 likely pathogenic COL4A1-related disorder 2023-07-10 criteria provided, single submitter clinical testing The COL4A1 c.3851G>A variant is predicted to result in the amino acid substitution p.Gly1284Glu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. This variant occurs at a glycine (Gly) residue within the highly conserved collagen triple helical domain (Gly-X-Y) were glycine variants are frequently pathogenic (Plaisier et al. 1993. PubMed ID: 20301768; https://www.ncbi.nlm.nih.gov/books/NBK7046/). This variant is classified as likely pathogenic.

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