ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1573C>T (rs368007918)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000328456 SCV000329313 pathogenic not provided 2016-08-05 criteria provided, single submitter clinical testing The R525X pathogenic variant in the COL7A1 gene has been reported previously in association with autosomal recessive dystrophic epidermolysis bullosa (Whittock et al., 1999 Almaani et al. 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense- mediated mRNA decay. The R525X variant was not observed with any significant frequency in individuals of European or African American ancestry in the NHLBI Exome Sequencing Project. We interpret R525X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763516 SCV000894320 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
Biomedical Innovation Departament, CIEMAT RCV001352754 SCV001547287 pathogenic Dystrophic epidermolysis bullosa 2019-03-14 criteria provided, single submitter research
Invitae RCV000328456 SCV001589937 pathogenic not provided 2020-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg525*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs368007918, ExAC 0.006%). This variant has been observed in individual(s) with autosomal recessive epidermolysis bullosa (PMID: 10504458, 21448560). ClinVar contains an entry for this variant (Variation ID: 279785). 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.
Natera, Inc. RCV001273339 SCV001456299 pathogenic Recessive dystrophic epidermolysis bullosa 2020-09-16 no assertion criteria provided clinical testing

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