ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1990+4C>T

gnomAD frequency: 0.00002  dbSNP: rs771634502
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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 RCV001947798 SCV002190732 uncertain significance not provided 2022-02-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. This variant is present in population databases (rs771634502, gnomAD 0.004%). This sequence change falls in intron 27 of the COL4A1 gene. It does not directly change the encoded amino acid sequence of the COL4A1 protein. It affects a nucleotide within the consensus splice site.
CeGaT Center for Human Genetics Tuebingen RCV001947798 SCV002585455 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing COL4A1: BP4
Fulgent Genetics, Fulgent Genetics RCV005006226 SCV005632416 likely benign 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 2024-06-13 criteria provided, single submitter clinical testing

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