ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1052dup (p.Pro352fs) (rs1555305682)

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Total submissions: 1
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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.

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