ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)

gnomAD frequency: 0.00003  dbSNP: rs200786329
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710795 SCV000841099 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710795 SCV001091527 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Mendelics RCV000989165 SCV001139385 benign Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2019-05-28 criteria provided, single submitter clinical testing
New York Genome Center RCV002247414 SCV002097991 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2020-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000710795 SCV004034902 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing Identified in patients with small vessel disease and intracranial hemorrhage in published literature (PMID: 22522439, 31719132, 35711275, Aref2024[article]); Functional studies suggest that p.(P352L) results in reduced ratio of extracelluar to intracellular COL4A1 compared to controls (PMID: 22522439); 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: 29114093, 31857254, 34382650, Kiss2019, 22914737, 30518145, 22522439, 34426522, Aref2024[article], 31719132, 35711275, 30476936)
OMIM RCV000033090 SCV000056870 risk factor Hemorrhage, intracerebral, susceptibility to 2012-04-01 no assertion criteria provided literature only

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