ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) (rs1203706188)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523190 SCV000617662 pathogenic not provided 2017-08-17 criteria provided, single submitter clinical testing The R137X nonsense variant in the COL7A1 gene has been reported previously, in the compound heterozygous state with another COL7A1 nonsense variant, in a male infant with Hallopeau-Siemens autosomal recessive dystrophic epidermolysis bullosa (HS-RDEB) and absent collagen VII expression (Sawamura et al., 2005). The R137X variant was also reported in trans with a missense variant in a male patient with RDEB and milder clinical features (Yoshihara et al., 2014). This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R137X is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, a therapeutic study of aminoglycoside treatment on cells transfected with R137X improved readthrough and resulted in some synthesis and secretion of a stable full-length collagen VII protein (Cogan et al., 2014). We interpret R137X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763518 SCV000894322 pathogenic Recessive dystrophic epidermolysis bullosa; Pretibial epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nail disorder, nonsyndromic congenital, 8; Generalized dominant dystrophic epidermolysis bullosa 2018-10-31 criteria provided, single submitter clinical testing

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