ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.4894C>T (p.Arg1632Ter) (rs751535193)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760309 SCV000890162 pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing The R1632X variant in the COL7A1 gene has been reported multiple times in either the homozygous or compound heterozygous state in association with autosomal recessive dystrophic epidermolysis bullosa (RDEB) (Whittock et al., 1999; Kern et al., 2006; Almaani et al., 2011; Vahidnezhad et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1632X variant is observed in 5/125,468 alleles (0.004%) from individuals of non-Finnish European background, and 5/275,316 global alleles (0.002%) with no homozygous control individuals reported, in large population cohorts (Lek et al., 2016). We interpret R1632X as a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253741 SCV001429599 pathogenic Recessive dystrophic epidermolysis bullosa 2019-02-06 criteria provided, single submitter clinical testing

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