Submissions for variant NM_000094.4(COL7A1):c.7547dup (p.Gly2517_Asp2518insTer)

dbSNP: rs2107642953

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002004484	SCV002236562	pathogenic	not provided	2022-04-07	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asp2518*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	RCV003985860	SCV004801873	likely pathogenic	Recessive dystrophic epidermolysis bullosa		criteria provided, single submitter	clinical testing	A previously undescribed nucleotide variant creates a frameshift p.Asp2518Ter in the COL7A1 gene. The variant was observed in presumably compound heterozygous state with a known pathogenic variant (phase not tested) in an individual affected with epidermolysis bullosa. Homozygous and compound heterozygous variants are reported in patients with Epidermolysis bullosa dystrophica, autosomal recessive, 226600. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.