Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001507946 | SCV001713804 | likely pathogenic | not provided | 2019-09-05 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV003339656 | SCV004047180 | likely pathogenic | Elliptocytosis 1 | criteria provided, single submitter | clinical testing | The frame shift c.1744dup variant in the EPB41 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr582AsnfsTer5 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Threonine 582, changes this amino acid to Asparagine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Thr582AsnfsTer5. For these reasons, this variant has been classified as Likely Pathogenic. |