ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=)

dbSNP: rs1057518654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV002248650 SCV000328715 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2014-04-30 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in COL4A1 (NM_001845.4, c.3555A>G) and CRYGD (NM_006891.3, c.168C>G) in one individual with reported features of developmental delay, intellectual disability, seizure, dysmorphic features, microcephaly, a history of congenital cataract and stroke-like episodes.

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