ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1172_1173del (p.Asp390_Tyr391insTer)

dbSNP: rs2531322688
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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 RCV002664310 SCV003525234 pathogenic not provided 2022-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr391*) 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 autosomal recessive epidermolysis bullosa dystrophica (PMID: 8088783). For these reasons, this variant has been classified as Pathogenic.

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