ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4755+3A>G

gnomAD frequency: 0.00009  dbSNP: rs570472326
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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 RCV001980027 SCV002227401 uncertain significance not provided 2024-09-10 criteria provided, single submitter clinical testing This sequence change falls in intron 50 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. This variant is present in population databases (rs570472326, gnomAD 0.02%). 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: 1448039). 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. 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.
Ambry Genetics RCV002563515 SCV003556214 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.4755+3A>G intronic alteration consists of a A to G substitution nucleotides after coding exon 50 in the COL4A1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005002708 SCV005632829 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 2024-05-17 criteria provided, single submitter clinical testing

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