ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2458+2T>C

gnomAD frequency: 0.00001  dbSNP: rs1436175370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993374 SCV002231193 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 31 of the COL4A1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of COL4A1-related conditions (PMID: 25706114). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1451906). Studies have shown that disruption of this splice site results in skipping of exon 31, but is expected to preserve the integrity of the reading-frame (PMID: 25706114). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005006307 SCV005632907 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 2024-06-03 criteria provided, single submitter clinical testing

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