ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.995G>T (p.Gly332Val)

dbSNP: rs2060521579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328131 SCV001449255 likely pathogenic Nephrotic syndrome 2018-02-22 no assertion criteria provided clinical testing This patient is heterozygous for the c.995G>T (p.Gly332Val) variant in exon 17 of the COL4A4 gene. To our knowledge, the variant has not been reported in any population databases (i.e. ExAC, ESP or dbSNP), and also has not been previously reported in the literature or any disease specific databases. This variant results in substitution of one of the invariant glycine residues within the triple helical domain of the alpha 4 chain of type IV collagen. This variant is considered to be likely pathogenic according to the ACMG guidelines.

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