ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg)

gnomAD frequency: 0.00001  dbSNP: rs1265432530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669556 SCV000794319 uncertain significance Autosomal recessive Alport syndrome 2017-09-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001136672 SCV001296530 uncertain significance Alport syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV003227825 SCV003924991 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing Identified in a patient with early onset hearing loss and in an unrelated patient with focal segmental glomerulosclerosis in published literature (Miyagawa et al., 2013; Xie et al., 2015); 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: 25888712, 23967202, 25596306)

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