ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) (rs914878176)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672819 SCV000797963 likely pathogenic Alport syndrome, autosomal recessive 2018-02-23 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV001250550 SCV001425374 uncertain significance Alport syndrome 3, autosomal dominant 2020-05-19 criteria provided, single submitter clinical testing This COL4A3 variant has been reported in multiple individuals with clinically suspected autosomal recessive Alport syndrome and a second variant in this gene. COL4A3 c.3472G>C (rs914878176) is rare (<0.1%) in a large population dataset (gnomAD: 1/249490 total alleles; 0.0004%; no homozygotes), and has been reported in ClinVar. Three bioinformatic tools queried predict that this substitution would be damaging, and the glycine residue at this position is highly evolutionarily conserved across all species assessed. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.3472G>C to be uncertain at this time
Sydney Genome Diagnostics,Children's Hospital Westmead RCV001328059 SCV001449246 likely pathogenic Alport syndrome 2017-10-04 no assertion criteria provided clinical testing This individual is heterozygous for the c.3472G>C variant in the COL4A3 gene. This variant results in substitution of one of the invariant glycine residues, p.(Gly1158Arg), within the triple helical domain of the alpha 3 chain of type IV collagen. This variant has been previously described in individuals with autosomal recessive Alport syndrome by Storey et al J Am Soc Nephrol 2013 24: 1945-1954. This variant is considered to be likely pathogenic according to the ACMG guidelines.

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