ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1780-1G>T (rs104886338)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostic Laboratory,University of Szeged RCV000207547 SCV000262767 pathogenic Alport syndrome 1, X-linked recessive 2016-02-02 criteria provided, single submitter clinical testing
Invitae RCV001384768 SCV001584414 pathogenic not provided 2020-04-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 24 of the COL4A5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Alport syndrome (PMID: 26934356, 16941480, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 222057). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000207547 SCV000845164 pathogenic Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only

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