ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3882+5G>A (rs1553764454)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520022 SCV000620138 likely pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing The c.3882+5G>A variant in the COL4A3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a different splice variant at the same position, c.3882+5G>C, has been reported in the heterozygous state with another COL4A3 variant in an individual with Alport syndrome (Zhang et al., 2012). The c.3882+5G>A splice site variant is predicted to destroy the natural splice donor site in intron 43, and is expected to cause abnormal gene splicing. The c.3882+5G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3882+5G>A as a likely pathogenic variant.
Medical Genetics, University of Parma RCV001089908 SCV001245141 uncertain significance Alport syndrome, autosomal recessive 2020-03-11 criteria provided, single submitter clinical testing

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