ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.846G>A (p.Glu282=) (rs770216458)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519419 SCV000617660 likely pathogenic not provided 2017-04-05 criteria provided, single submitter clinical testing The c.846 G>A variant has been reported previously in a patient with autosomal recessive dystrophic epidermolysis bullosa who was also heterozygous for a second variant in the COL7A1 gene (Kern et al., 2009). In contrast, it is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). While this sequence variant is silent and does not change the amino acid codon, it is predicted to destroy the canonical splice donor site in intron 6. Therefore, we interpret the c.846 G>A variant as likely pathogenic.

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