ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4966C>A (p.Arg1656Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003149345 SCV003837112 uncertain significance not provided 2024-12-20 criteria provided, single submitter clinical testing Observed in an individual with retinal dystrophy and hearing impairment who also harbored variants in three other genes (PMID: 36266294); 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: 36266294)
Fulgent Genetics, Fulgent Genetics RCV005003028 SCV005632819 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 2024-01-08 criteria provided, single submitter clinical testing

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