ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.1312G>A (p.Gly438Arg)

gnomAD frequency: 0.00001  dbSNP: rs1266666247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003327356 SCV004034155 likely pathogenic Porencephaly 2 2023-07-21 criteria provided, single submitter clinical testing
GeneDx RCV003443202 SCV004167777 uncertain significance not provided 2023-04-13 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge

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