ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2918-1G>A (rs104886372)

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Total submissions: 3
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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 RCV000714397 SCV001134992 pathogenic Alport syndrome 1, X-linked recessive 2019-12-31 criteria provided, single submitter clinical testing A hemizygous 3' splice site variation in intron 33 of the COL4A5 gene that affects the invariant AG acceptor splice site of exon 34 was detected. The observed variant c.2918-1G>A (3' splice site) has previously been reported in patients affected with Alport syndrome (Moriniere et al 2014). The variant has not been reported in the 1000 Genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference base is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000714397 SCV001190360 pathogenic Alport syndrome 1, X-linked recessive 2020-03-11 criteria provided, single submitter clinical testing A heterozygous splice site variation in intron 33 of the COL4A5 gene was detected. The observed variant c.c.2918-1G>A has not been reported in the 1000 genomes and ExAC databases. It is reported in patient affected with Alport syndrome by Moriniere et al. 2014. The in silico prediction of the variant is damaging by MutationTaster2. In summary, the variant meets our criteria to be classified as pathogenic.
Research and Development, ARUP Laboratories RCV000714397 SCV000845088 pathogenic Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only

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