Submissions for variant NM_000213.5(ITGB4):c.600dup (p.Phe201fs)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000302350	SCV000329367	pathogenic	not provided	2022-11-04	criteria provided, single submitter	clinical testing	Observed multiple times with another variant in unrelated patients referred for genetic testing at GeneDx or in published literature with epidermolysis bullosa with or without pyloric atresia, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in some cases (Masunaga et al., 2004; Zhou et al., 2021); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Also known as c.594insC; This variant is associated with the following publications: (PMID: 34997808, 21969027, 30011071, 15009117, 34462954)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000302350	SCV003442413	pathogenic	not provided	2023-10-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Phe201Leufs*15) 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 present in population databases (rs752657203, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa with or without pyloric atresia (PMID: 15009117, 30011071). This variant is also known as 600insC. ClinVar contains an entry for this variant (Variation ID: 279814). 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.
Dr.Nikuei Genetic Center	RCV004595501	SCV005088412	pathogenic	Epidermolysis bullosa, junctional 5A, intermediate		criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV004786645	SCV005397949	pathogenic	Junctional epidermolysis bullosa with pyloric atresia	2024-11-18	criteria provided, single submitter	clinical testing

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