ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)

gnomAD frequency: 0.00001  dbSNP: rs769683665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003447552 SCV004175771 uncertain significance Autosomal recessive Alport syndrome 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.2962G>A(p.Gly988Arg) in COL4A3 gene has been reported previously in heterozygous state with monogenic steroid-resistant nephrotic syndrome (Larisa Prikhodina, et al., 2021). The variant has 0.0004% allele frequency in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Glycine at position 988 is changed to a Arginine changing protein sequence and it might alter its composition and physico-chemical properties. This variant has been reported to the ClinVar database as Likely Pathogenic. However, study on multiple affected individuals and functional impact of the variant is not available. The variant is predicted to be damaging by SIFT. The amino acid change p.Gly988Arg in COL4A3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005021047 SCV005651340 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-05-18 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000681932 SCV000809416 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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