ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.1744dup (p.Thr582fs)

dbSNP: rs2150754040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507946 SCV001713804 likely pathogenic not provided 2019-09-05 criteria provided, single submitter clinical testing PVS1, PM2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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.

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