ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) (rs727504817)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156154 SCV000205869 uncertain significance not specified 2013-11-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Gln857X var iant in DFNB31 has not been previously reported in individuals with hearing loss or in large population studies. This nonsense variant leads to a premature term ination codon at position 857 which is 51 amino acid residues upstream of the ca nonical termination codon; however, the termination codon occurs within the last exon. Therefore, nonsense mediated decay is not expected to occur and the impac t to normal protein function cannot be predicted with certainty. In summary, the clinical significance of this variant cannot be determined with certainty; howe ver based upon the predicted loss of 51 amino acids due to the truncation, we wo uld lean towards a more likely pathogenic role.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477755 SCV000536817 uncertain significance Deafness, autosomal recessive 31; Usher syndrome, type 2D 2015-07-25 no assertion criteria provided research

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