ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1052dup (p.Pro352fs)

dbSNP: rs1555305682
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520081 SCV000620115 likely pathogenic not provided 2017-08-17 criteria provided, single submitter clinical testing The c.1052dupC variant in the COL4A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1052dupC variant causes a frameshift starting with codon Proline 352, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 38 of the new reading frame, denoted p.Pro352SerfsX38. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1052dupC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1052dupC as a likely pathogenic variant.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.