ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.953A>T (p.Asn318Ile)

dbSNP: rs1454995069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250538 SCV001425351 uncertain significance Junctional epidermolysis bullosa with pyloric atresia 2020-03-12 criteria provided, single submitter clinical testing ITGB4 c.953A>T (rs1454995069) is rare (<0.1%) in a large population dataset (gnomAD: 1/251176 total alleles; 0.0004%; no homozygotes) and has not been reported in the literature, to our knowledge. Three bioinformatics tools queried predict that this substitution would be deleterious. Bioinformatic analysis predicts that this variant would not affect normal exon 8 splicing, although this has not been confirmed experimentally to our knowledge. The asparagine residue at this position is evolutionarily conserved across all species assessed and conserved across other beta chains in humans. This substitution occurs in the extracellular VWFa domain of the integrin ?4 subunit (positions 131-329) where different missense variants causing JEB-PA cluster. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.953A>T to be uncertain at this time.

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