ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5932C>T (rs1368134215)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523202 SCV000617659 pathogenic not provided 2017-10-30 criteria provided, single submitter clinical testing The R1978X pathogenic variant in the COL7A1 gene has been reported previously in multiple individuals with dystrophic epidermolysis bullosa (Gardella et al., 2000; Sawamura et al., 2005; Natsuga et al., 2010; Rodriguez et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1978X variant is observed in 1/14,974 (0.007%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). We interpret R1978X as a pathogenic variant.
Biomedical Innovation Departament, CIEMAT RCV001352708 SCV001547335 pathogenic Dystrophic epidermolysis bullosa 2017-05-11 criteria provided, single submitter research

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