ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4463G>T (p.Gly1488Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003152990 SCV003841636 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.91; 3Cnet: 0.69). This variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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