ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu)

dbSNP: rs2066640120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040113 SCV005674711 likely pathogenic X-linked Alport syndrome 2024-01-16 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328142 SCV001449305 likely pathogenic Alport syndrome 2019-10-24 no assertion criteria provided clinical testing This individual is heterozygous for the c.2129G>A variant in the COL4A5 gene, which results in the amino acid substitution of glycine to glutamic acid at residue 710, p.(Gly710Glu). The variant has not been reported in any population databases (i.e. gnomAD, ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. In silico analysis of pathogenicity (through Alamut Visual v2.8.1) using PolyPhen2, SIFT and MutationTaster all suggest that this variant is likely to be pathogenic. This variant results in substitution of one of the invariant glycine residues within the triple helical domain of the alpha 5 chain of type 4 collagen. This variant is considered to be likely pathogenic according to the ACMG guidelines (Evidence used: PM1_Strong, PM2, PP3).

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