ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.4888C>T (p.Arg1630Ter) (rs121912847)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000388576 SCV000329317 pathogenic not provided 2016-03-10 criteria provided, single submitter clinical testing The R1630X nonsense variant in the COL7A1 gene has been reported previously in association with dystrophic epidermolysis bullosa (Pulkkinen et al., 1999). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
OMIM RCV000019005 SCV000039292 pathogenic Epidermolysis bullosa pruriginosa, autosomal recessive 2006-10-01 no assertion criteria provided literature only
Natera, Inc. RCV001272359 SCV001454271 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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