ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.3504del (p.Pro1168_Leu1169insTer) (rs730880286)

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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 RCV000157651 SCV000195856 likely pathogenic Recessive dystrophic epidermolysis bullosa 2014-06-05 no assertion criteria provided clinical testing This COL7A1 variant c.3504delC was found heterozygously in a 5 year male suffering from epidermolysis bullosa. This change causes a deletion leading to a frameshift and consequent truncation after one amino acid in the protein (p.Leu1169TerfsTer1) resulting protein a of 1168 amino acid length. The effect of premature truncation is predicted to cause a complete loss of NC-2 domain and a partial loss of NC-1 domain both of which are reported to affect the processing of collagen VII (PMID: 2443495).

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