ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer)

dbSNP: rs759412123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674109 SCV000799385 uncertain significance Deficiency of galactokinase 2018-04-20 criteria provided, single submitter clinical testing
Invitae RCV003727802 SCV004535474 pathogenic not provided 2023-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1657*) 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: 23496044). ClinVar contains an entry for this variant (Variation ID: 557909). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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