ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)

gnomAD frequency: 0.00004  dbSNP: rs147026529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002044160 SCV002112095 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482417 SCV002786756 uncertain significance Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate 2021-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545338 SCV003744848 uncertain significance Inborn genetic diseases 2022-03-31 criteria provided, single submitter clinical testing The c.3221G>A (p.R1074H) alteration is located in exon 27 (coding exon 26) of the ITGB4 gene. This alteration results from a G to A substitution at nucleotide position 3221, causing the arginine (R) at amino acid position 1074 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002044160 SCV004036860 uncertain significance not provided 2023-09-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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