Submissions for variant NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter)

dbSNP: rs1262422383

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biomedical Innovation Departament, CIEMAT	RCV001352756	SCV001547290	pathogenic	Epidermolysis bullosa dystrophica	2017-11-11	criteria provided, single submitter	research
Invitae	RCV001529155	SCV003525548	pathogenic	not provided	2023-05-20	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg682*) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1047976). This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa dystrophica (PMID: 10504458, 29473190). This variant is present in population databases (no rsID available, gnomAD 0.3%).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529155	SCV001742155	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529155	SCV001956610	pathogenic	not provided		no assertion criteria provided	clinical testing