ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)

dbSNP: rs1559897288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681728 SCV003915330 likely pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing Reported in the heterozygous state in a patient with glomerulopathy in published literature (Groopman et al., 2019); however, clinical information was limited; Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL4A3 gene, where the majority of pathogenic missense variants occur, and is predicted to disrupt normal protein folding and function (Stenson et al., 2014; Jais et al., 2000); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30586318, 24077912, 10752524)
Fulgent Genetics, Fulgent Genetics RCV005019172 SCV005651318 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-02-28 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000681728 SCV000809182 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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