ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2627-1G>A

dbSNP: rs1064796811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478673 SCV000573908 likely pathogenic not provided 2017-03-09 criteria provided, single submitter clinical testing The c.2627-1G>A variant in the COL4A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 32, which is predicted to cause abnormal gene splicing. The c.2627-1G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret c.2627-1G>A as a likely pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV003388836 SCV004100740 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2023-08-09 criteria provided, single submitter clinical testing Criteria applied: PVS1_MOD,PS4_SUP,PM2_SUP

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