ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.388-1G>C

dbSNP: rs766209938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Institute, Tel Aviv Sourasky Medical Center RCV001391264 SCV001593213 likely pathogenic Corpus callosum, agenesis of; Abnormal cerebral cortex morphology; Colpocephaly 2021-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001872000 SCV002270875 likely pathogenic not provided 2021-06-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with COL4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1077129). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 6 of the COL4A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL4A1 are known to be pathogenic (PMID: 23225343).
3billion, Medical Genetics RCV002250761 SCV002521229 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with COL4A1 related disorder (ClinVar ID: VCV001077129). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Institute of Human Genetics, University of Leipzig Medical Center RCV002250761 SCV005423823 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2024-11-12 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2,PS4_MOD,PM2_SUP

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