ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1466-1G>C

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003561755 SCV004281530 likely pathogenic not provided 2024-12-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 23 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2724594). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GeneDx RCV003561755 SCV005385682 likely pathogenic not provided 2024-04-10 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV003561755 SCV005414193 likely pathogenic not provided 2024-05-29 criteria provided, single submitter clinical testing PM2, PVS1
Fulgent Genetics, Fulgent Genetics RCV005013014 SCV005632442 likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2024-04-16 criteria provided, single submitter clinical testing

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