ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter) (rs121912852)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255683 SCV000321511 pathogenic not provided 2016-10-21 criteria provided, single submitter clinical testing The R2471X nonsense variant in the COL7A1 gene has been reported previously in association with dystrophic epidermolysis bullosa (Christiano et al., 1996; Posteraro et al., 2005), and its presence in the homozygous state is consistent with the diagnosis in this patient. However, this result could also have been seen if the patient had one allele with the R2471X variant and one allele that was partially missing or refractory to amplification. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. R2471X was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Invitae RCV000255683 SCV001589400 pathogenic not provided 2020-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2471*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121912852, ExAC 0.001%). This variant has been observed in individual(s) with clinical features of autosomal recessive epidermolysis bullosa dystrophica (PMID: 8644729, 31001817,29473190). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 17459). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019010 SCV000039297 pathogenic Recessive dystrophic epidermolysis bullosa 1996-04-01 no assertion criteria provided literature only

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