ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) (rs1553641597)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480791 SCV000572535 uncertain significance not provided 2016-12-23 criteria provided, single submitter clinical testing The c.2628_2654dup27 variant in the COL4A4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2628_2654dup27 variant causes an in-frame duplication of nine amino acid residues within the triple helical region of the COL4A4 protein, beginning with Arginine 877 and ending with Glycine 885, denoted p.Arg877_Gly885dup. The c.2628_2654dup27 variant was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2628_2654dup27 as a variant of uncertain significance.
Invitae RCV000480791 SCV001483189 uncertain significance not provided 2020-09-27 criteria provided, single submitter clinical testing This variant, c.2628_2654dup, results in the insertion of 9 amino acid(s) to the COL4A4 protein (p.Arg877_Gly885dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 422936). 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. 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.
Institute of Human Genetics,Cologne University RCV000495560 SCV000583562 uncertain significance Alport syndrome, autosomal recessive no assertion criteria provided clinical testing

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