ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.3971del (p.Leu1324fs) (rs886044621)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000414713 SCV000345687 pathogenic not provided 2016-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000414713 SCV000490485 pathogenic not provided 2015-05-29 criteria provided, single submitter clinical testing The c.3971delT variant in the COL7A1 gene has not been reported previously as pathogenic nor as a benign polymorphism, to our knowledge, although it has been seen in two other RDEB patients studied at GeneDx and numerous other single base deletions have been reported. The c.3971delT variant causes a frameshift starting with codon Leu1324, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 75 of the new reading frame, denoted p.L1324QfsX75. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3971delT 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.3971delT as a pathogenic variant.

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