ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1424-20T>A

dbSNP: rs281874668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001582492 SCV001814053 likely pathogenic not provided 2020-05-18 criteria provided, single submitter clinical testing Published functional studies demonstrate this variant causes exon skipping of exon 22 (Horinouchi et al., 2019); Not observed in large population cohorts (Lek et al., 2016); In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 31481700, 20378821, 19919694)
Fulgent Genetics, Fulgent Genetics RCV002490400 SCV002802135 pathogenic X-linked Alport syndrome 2024-02-05 criteria provided, single submitter clinical testing

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