ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.3840del (p.Gly1281fs) (rs757688782)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413788 SCV000490484 pathogenic not provided 2018-10-24 criteria provided, single submitter clinical testing The c.3840delC variant in the COL7A1 gene has been reported in the homozygous or compound heterozygous state in multiple individuals with autosomal recessive dystrophic epidermolysis bullosa (Whittock et al., 1999; Varki et al., 2007; Tolar et al., 2014). The c.3840delC variant causes a frameshift starting with codon Glycine 1281, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 44 of the new reading frame, denoted p.Gly1281ValfsX44. The c.3840delC variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.3840delC as a pathogenic variant.
Invitae RCV000413788 SCV000956457 pathogenic not provided 2020-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1281Valfs*44) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs757688782, ExAC 0.002%). This variant has been observed in combination with another COL7A1 variant in individuals affected with epidermolysis bullosa dystrophica (PMID: 10504458, 24317394, 23786535, 16971478). 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: 372332). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477818 SCV000536812 pathogenic Transient bullous dermolysis of the newborn 2016-02-23 no assertion criteria provided research
Natera, Inc. RCV001272362 SCV001454274 pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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