ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) (rs757415879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000304634 SCV000445093 pathogenic Dystrophic epidermolysis bullosa 2017-04-27 criteria provided, single submitter clinical testing The COL7A1 c.5797C>T (p.Arg1933Ter) variant is a stop-gained variant reported in a total of ten individuals with dystrophic epidermolysis bullosa, including one homozygote, seven compound heterozygotes, two affected heterozygotes in whom a second variant was not identified, and in one unaffected heterozygous parent of an affected individual (Whittock et al. 1999; Csikos et al. 2003; Wessagowit et al. 2005; Kern et al. 2006; Arnold et al. 2009; Escamez et al. 2010; Montaudie et al. 2016). The variant was absent from 100 control individuals and from 192 control chromosomes (Csikos et al. 2005; Oh et al. 2007; Escamez et al. 2010). It is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium, but this is based on only one allele in a region of good sequence coverage, so it is presumed to be rare. Expression studies in HEK293 cells showed a complete lack of expression of the p.Arg1933Ter variant (Cogan et al. 2014). Based on the evidence, the p.Arg1933Ter variant is classified as pathogenic for dystrophic epidermolysis bullosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000816080 SCV000956570 pathogenic not provided 2018-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1933*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757415879, ExAC 0.002%). This variant has been observed in several individuals affected with epidermolysis bullosa dystrophica (PMID: 10504458, 12653705, 15816848, 27544590, 29500833). ClinVar contains an entry for this variant (Variation ID: 345830). 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. RCV001272351 SCV001454263 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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