ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.1043del (p.Phe348fs) (rs1064795117)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484968 SCV000570601 likely pathogenic not provided 2016-06-21 criteria provided, single submitter clinical testing A novel c.1043delT variant that is likely pathogenic has been identified in the WWOX gene. The c.1043delT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1043delT variant causes a frameshift starting with codon Phenylalanine 348, changes this amino acid to a Serine residue and creates a premature Stop codon at position 57 of the new reading frame, denoted p.Phe348SerfsX57. This variant is predicted to cause loss of normal protein function through protein truncation as the last 67 amino acid residues are replaced by 56 aberrant resides. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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