ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp)

dbSNP: rs1566349690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV002249404 SCV000807391 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 2-year-old female with profound delays, mixed hypo/hypertonia, epilepsy, dysmorphic features, microcephaly, hydrocephalus, Dandy Walker cyst, optic nerve atrophy, cataracts, cortical visual impairment, severe hypertrophic cardiomyopathy, left ventricular outflow obstruction, hemangioma of right eyelid, thrombosis.
Baylor Genetics RCV002290972 SCV002583267 pathogenic Microangiopathy and leukoencephalopathy, pontine, autosomal dominant no assertion criteria provided clinical testing

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