ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.6855_6881del (p.Val2286_Pro2294del) (rs1553853012)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599125 SCV000710761 likely pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing The c.6855_6881del27 variant in the COL7A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes an in-frame deletion of 9 amino acids, starting with codon Valine 2286, denoted p.Val2286_Pro2294del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect, as this deletion includes multiple Gly-X-Y repeats in the Gly-X-Y repetitive motif of the triple helical region of the COL7A1 gene, which is critical for proper protein alignment and structure. The c.6855_6881del27 variant is not observed in large population cohorts (Lek et al., 2016). To our knowledge, there has been only one other in-frame COL7A1 deletion reported previously (c.6189_6206del18), which was confirmed de novo in a male child with transient bullae and dystrophic toenails (Sobczynska-Tomaszewska et al., 2011; Wertheim-Tysarowska et al., 2012). We therefore interpret c.6855_6881del27 as a likely pathogenic variant.

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