ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8244dup (p.Gly2749fs)

dbSNP: rs2107632018
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380606 SCV001578726 pathogenic not provided 2024-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly2749Argfs*41) 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 premature translational stop signal has been observed in individual(s) with recessive dystrophic epidermolysis bullosa (PMID: 12813757). This variant is also known as c.8245insC. ClinVar contains an entry for this variant (Variation ID: 1068914). For these reasons, this variant has been classified as Pathogenic.

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