ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) (rs761234904)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598770 SCV000709967 pathogenic not provided 2018-11-06 criteria provided, single submitter clinical testing The R1343X pathogenic variant in the COL7A1 gene has been reported in combination another COL7A1 variant in multiple individuals with dystrophic epidermolysis bullosa, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Hovnanian et al., 1997; Kern et al., 2006; Jerabkova et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1343X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R1343X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763513 SCV000894317 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
Invitae RCV000598770 SCV001393140 pathogenic not provided 2020-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1343*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs761234904, ExAC 0.01%). This variant has been observed in an individual affected with epidermolysis bullosa dystrophica and to be homozygous or in combination with another COL7A1 variant in individuals affected with this condition (PMID: 21448560, 27899325, 8037207). This variant is also known as Arg1216X in the literature. ClinVar contains an entry for this variant (Variation ID: 503709). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001272361 SCV001454273 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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