ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2629_2664del (p.Arg877_Gly888del)

dbSNP: rs2150234491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002225181 SCV002503717 likely pathogenic Autosomal recessive Alport syndrome 2023-03-30 criteria provided, single submitter clinical testing This sequence change is an in-frame deletion of 36 bp predicted to cause the deletion of 12 amino acids from position 877 to 888 of the COL4A4 protein (p.Arg877_Gly888del). The deletion is in a non-repeat region, which leads to the removal of four highly conserved glycines (100 vertebrates, UCSC) in Gly-X-Y repeats from the collagen triple helical region of the protein (Uniprot - PM1, PM4). The variant is absent in a large population cohort (gnomAD v2.1, in a region of sufficient coverage - PM2). The variant has not been reported previously in the relevant medical literature or databases. Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PM1, PM2, PM4.

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