ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs)

dbSNP: rs2061355653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352882 SCV001547446 pathogenic Junctional epidermolysis bullosa with pyloric atresia 2012-07-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003558823 SCV004297541 pathogenic not provided 2023-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1236Serfs*29) in the ITGB4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGB4 are known to be pathogenic (PMID: 11328943, 16473856). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with epidermolysis bullosa (PMID: 26739954). This variant is also known as p.T1236Sfs*28. ClinVar contains an entry for this variant (Variation ID: 1048068). For these reasons, this variant has been classified as Pathogenic.

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