ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287285 SCV002577546 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2022-01-07 criteria provided, single submitter clinical testing PVS1, PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003101646 SCV003233440 pathogenic not provided 2022-12-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1708132). This sequence change creates a premature translational stop signal (p.Leu222*) in the COL4A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A1 are known to be pathogenic (PMID: 23225343). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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