ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3751_3752insACCA (p.Cys1251fs)

dbSNP: rs1064795917
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485803 SCV000572170 pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing The c.3751_3752insACCA 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.3751_3752insACCA variant causes a frameshift starting with codon Cys1251, changes this amino acid to a Tyrosine residue, and creates a premature Stop codon at position 110 of the new reading frame, denoted p.Cys1251TyrfsX110. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3751_3752insACCA variant was not observed in approximately 6500 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.3751_3752insACCA as a pathogenic variant.

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