ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.267-1G>A

dbSNP: rs1575495784
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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 RCV003676274 SCV004398154 pathogenic not provided 2023-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple out-of-frame RNA products (PMID: 12485454). Disruption of this splice site has been observed in individual(s) with autosomal recessive dystrophic epidermolysis bullosa (PMID: 12485454). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 2 of the COL7A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478).

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