ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2269_2276del (p.Lys757fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005005559 SCV005632914 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 2024-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112566 SCV005742232 pathogenic not provided 2024-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys757Hisfs*24) 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). 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. For these reasons, this variant has been classified as Pathogenic.

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