ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.2783-2A>G (rs758551913)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190599 SCV000245627 likely pathogenic Epidermolysis bullosa junctionalis with pyloric atresia 2014-04-23 criteria provided, single submitter clinical testing The c.2783-2A>G variant in ITGB4 has not been reported in individuals with epidermolysis bullosa with pyloric atresia and was absent from large population studies. This variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. In summary, although additional studies are required to fully establish its clinical significance, the c.2783-2A>G variant is likely pathogenic.
Biomedical Innovation Departament, CIEMAT RCV000190599 SCV001547442 pathogenic Epidermolysis bullosa junctionalis with pyloric atresia 2018-11-26 criteria provided, single submitter research

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