ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.3112-3C>T

gnomAD frequency: 0.00138  dbSNP: rs151033645
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001122524 SCV001281243 uncertain significance Junctional epidermolysis bullosa with pyloric atresia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001856614 SCV002307784 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change falls in intron 26 of the ITGB4 gene. It does not directly change the encoded amino acid sequence of the ITGB4 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs151033645, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with clinical features of epidermolysis bullosa (PMID: 11328943). ClinVar contains an entry for this variant (Variation ID: 888918). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV002249733 SCV002517214 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491381 SCV002778442 uncertain significance Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate 2022-05-14 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001856614 SCV003799063 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing BP4
Revvity Omics, Revvity RCV001856614 SCV003813854 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001856614 SCV004144261 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ITGB4: BP4, BS2

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