ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) (rs1453590085)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000995722 SCV001150047 pathogenic Alport syndrome, autosomal recessive 2019-06-07 criteria provided, single submitter clinical testing
Invitae RCV001238070 SCV001410865 pathogenic not provided 2019-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln10*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with COL4A3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). For these reasons, this variant has been classified as Pathogenic.

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