ClinVar Miner

Submissions for variant NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002968642 SCV003681350 uncertain significance Inborn genetic diseases 2024-05-15 criteria provided, single submitter clinical testing The c.1370G>A (p.R457H) alteration is located in exon 9 (coding exon 9) of the EPB42 gene. This alteration results from a G to A substitution at nucleotide position 1370, causing the arginine (R) at amino acid position 457 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143559 SCV003833500 likely benign Hereditary spherocytosis type 5 2023-03-14 criteria provided, single submitter clinical testing

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