ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7349del (p.Pro2450fs) (rs1575425011)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008280 SCV001168047 likely pathogenic not provided 2018-07-26 criteria provided, single submitter clinical testing The c.7349delC variant in the COL7A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Proline 2450, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.P2450HfsX16. The c.7349delC variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.7349delC as a likely pathogenic variant.

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