ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.2435-6_2440del (rs797045084)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190573 SCV000245592 likely pathogenic Adult junctional epidermolysis bullosa 2014-12-18 criteria provided, single submitter clinical testing The c.2435-6_2440del variant in COL17A1 has not been previously reported in individuals/any other families with disease. Data from large population studies is insufficient to assess the frequency of this variant. This variant deletes the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Homozygous or compound heterozygous loss of function variants in COL17A1 have been shown to cause junctional epidermolysis bullosa. In summary, although additional studies are required to fully establish its clinical significance, the c.2435-6_2440del variant is likely pathogenic.

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