ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.384+1G>A

dbSNP: rs1569488437
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002267433 SCV002549524 likely pathogenic not provided 2022-01-13 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in in-frame deletion within a critical region. Variant damages or destroys the canonical splice donor site in intron 6, and is expected to cause abnormal gene splicing; if the splice outcome is exon skip, the loss of the encoded residues in the triple helical region is expected to disrupt normal protein folding and function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35005319, 24337245)
Fulgent Genetics, Fulgent Genetics RCV005042766 SCV005679753 pathogenic X-linked Alport syndrome 2024-01-08 criteria provided, single submitter clinical testing

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