ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.*32G>A

dbSNP: rs1876439052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002307636 SCV002600281 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2022-09-22 criteria provided, single submitter clinical testing A heterozygous 3’UTR variation in the COL4A1 gene was detected. The observed variation has previously been reported in patients affected with Pontine microangiopathy and leukoencephalopathy . This variant has not been reported in 1000 genomes and gnomAD databases and in our internal database. The in silico prediction# of the variant is damaging by MutationTaster2. The reference base is conserved across species.
OMIM RCV000850147 SCV000992314 pathogenic Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2019-09-06 no assertion criteria provided literature only

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