ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)

gnomAD frequency: 0.00009  dbSNP: rs144036466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001195691 SCV001366095 uncertain significance Alport syndrome 2020-02-20 criteria provided, single submitter clinical testing
Invitae RCV001458763 SCV001662591 likely benign not provided 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001458763 SCV001993849 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing Identified in a patient with ocular abnormalities leading to blindness in published literature, however, the specific phenotype was not reported (Dineiro et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; Occurs in the triple helical domain within an interruption of the canonical Gly-X-Y repeat; This variant is associated with the following publications: (PMID: 32483926)

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