ClinVar Miner

Submissions for variant NC_000003.11:g.(?_48609446)_(48618853_?)del

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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 RCV004582241 SCV005066364 pathogenic not provided 2023-08-13 criteria provided, single submitter clinical testing This variant results in the deletion of exons 51-90 and part of exon 91 (c.4818+28_7056delinsTCCTCCCGTCTTCT) 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). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. This variant disrupts a region of the COL7A1 protein in which other variant(s) (p.Gly2272Ala) have been determined to be pathogenic (PMID: 21113014, 21448560; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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