ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His)

gnomAD frequency: 0.00001  dbSNP: rs747250117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002015304 SCV002283626 likely benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492296 SCV002783433 uncertain significance Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2022-03-22 criteria provided, single submitter clinical testing
GeneDx RCV002015304 SCV004023165 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing 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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