ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.327+1_327+5del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587781 SCV005076769 likely pathogenic Autosomal recessive Alport syndrome 2024-04-10 criteria provided, single submitter clinical testing Variant summary: c.327+1_327+5delGTAAG removes 5 nucleotides in a canonical splice-site region and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes the canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 247302 control chromosomes. To our knowledge, no occurrence of c.327+1_327+5delGTAAG in individuals affected with Alport Syndrome, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as Likely Pathogenic.

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