ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs)

dbSNP: rs752558942
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009024 SCV001168834 pathogenic not provided 2018-08-30 criteria provided, single submitter clinical testing The c.1452_1453delCT pathogenic variant in the COL7A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1452_1453delCT variant causes a frameshift starting with codon Tyrosine 485, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 63 of the new reading frame, denoted p.Tyr485HisfsX63. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1452_1453delCT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1452_1453delCT as a pathogenic variant.

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