ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) (rs780261665)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415386 SCV000492772 pathogenic Short stature; Toe syndactyly; Finger syndactyly; Palmoplantar blistering 2015-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000485192 SCV000564905 pathogenic not provided 2016-10-21 criteria provided, single submitter clinical testing The R669X variant in the COL7A1 gene has been reported previously in association with (RDEB) (Cserhalmi-Friedman et al., 1998; Yonei et al., 2006; Kern et al., 2009; van den Akker et al., 2009; Schwieger-Briel et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsensemediated mRNA decay. The R669X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, we interpret R669X as a pathogenic variant.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626601 SCV000747302 pathogenic Abnormality of the skin; Nail dystrophy; Skin erosion 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626602 SCV000747303 pathogenic Abnormal blistering of the skin 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626603 SCV000747304 pathogenic Anonychia 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000485192 SCV001217456 pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg669*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780261665, ExAC 0.01%). This variant has been observed in individuals affected with dystrophic epidermolysis bullosa (PMID: 9881948, 26076072, 26148662). ClinVar contains an entry for this variant (Variation ID: 374052). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198316 SCV001369200 pathogenic Epidermolysis bullosa pruriginosa 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1,PM2,PM3,PP3,PP4.
Natera, Inc. RCV001273337 SCV001456296 pathogenic Recessive dystrophic epidermolysis bullosa 2020-09-16 no assertion criteria provided clinical testing

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