ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5000G>A (p.Gly1667Glu) (rs864321654)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd RCV000203512 SCV000258914 uncertain significance Recessive dystrophic epidermolysis bullosa criteria provided, single submitter clinical testing The identified novel heterozygous missense substitution (p.Gly1667Glu) alters a conserved residue in the protein. The identified variant lies in the triple helical domain of the protein (1254-2784 aa). Another missense variant, p.Pro1699Leu which lies in the vicinity of the identified variant, and also lies in the triple helical domain, has been reported as 'pathogenic' in the ClinVar database (SCV000034653) with respect to epidermolysis bullosa, pretibial, autosomal recessive. Additionally, variations that typically involve glycine substitutions within the type VII collagen triple helix have been associated with a spectrum of dystrophic epidermolysis bullosa phenotypes [PMID:8644729].

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