ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2337del (p.Ile780fs)

dbSNP: rs2139165506
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneID Lab - Advanced Molecular Diagnostics RCV002246482 SCV002011827 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2019-08-27 criteria provided, single submitter clinical testing This variant creates a premature translational stop signal referred to as p.Ile780SerfsTer22 in the COL4A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not reported in the ClinVar Data Base (NCBI), it has not been published in the medical literature before, and it was not found in the gnomAD exomes data base. Based on these findings and the limited literature regarding this substitution we consider it as a “likely pathogenic variant”.

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