ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.4980+1G>C (rs730880285)

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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 RCV000157650 SCV000195855 likely pathogenic Recessive dystrophic epidermolysis bullosa 2014-06-05 no assertion criteria provided clinical testing This COL7A1 splice site variant c.4980+1G>C was found heterozygously in a 5 year male suffering from epidermolysis bullosa. This change results in the substitution and consecutive loss of an essential splice donor site and complete loss of the NC-2 domain. The variant overlaps with a known splice site variant c.4980+1G>T that was found to the associated with dystrophic epidermolysis bullosa and seen in compound heterozygosity in a patient with Hallopeau-Siemens recesive dystrophic epidermolysis bullosa (PMID:10504458).

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