ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1241-5G>A

dbSNP: rs2531319633
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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 RCV003856050 SCV004656269 pathogenic not provided 2024-02-26 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the COL7A1 gene. It does not directly change the encoded amino acid sequence of the COL7A1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of epidermolysis bullosa dystrophica (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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