ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)

gnomAD frequency: 0.00001  dbSNP: rs1877827904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001938389 SCV002195600 pathogenic not provided 2021-06-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1063*) in the COL4A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A1 are known to be pathogenic (PMID: 23225343).
Fulgent Genetics, Fulgent Genetics RCV002484524 SCV002794877 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 2022-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529048 SCV004112581 likely pathogenic COL4A1-related disorder 2023-02-16 criteria provided, single submitter clinical testing The COL4A1 c.3187C>T variant is predicted to result in premature protein termination (p.Arg1063*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in COL4A1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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