ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter)

dbSNP: rs2045393987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386585 SCV001586849 pathogenic not provided 2021-12-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1073553). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa dystrophica (PMID: 32484238). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln908*) 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).
Mendelics RCV002246371 SCV002519420 pathogenic Transient bullous dermolysis of the newborn 2022-05-04 criteria provided, single submitter clinical testing

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