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

gnomAD frequency: 0.00138  dbSNP: rs151033645

Total submissions: 7

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.
Labcorp Genetics (formerly Invitae), Labcorp	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