ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.546+2dup (rs1569489353)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000995518 SCV001149726 pathogenic Alport syndrome 1, X-linked recessive 2018-03-15 criteria provided, single submitter clinical testing
Invitae RCV000681893 SCV001531374 uncertain significance not provided 2020-03-18 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the COL4A5 gene. It does not directly change the encoded amino acid sequence of the COL4A5 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Alport syndrome (PMID: 24304881). ClinVar contains an entry for this variant (Variation ID: 562420). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 24304881). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Gharavi Laboratory,Columbia University RCV000681893 SCV000809372 pathogenic not provided 2018-09-16 no assertion criteria provided research

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