ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.856dup (p.Asp286fs) (rs1064794551)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480201 SCV000569426 likely pathogenic not provided 2016-03-09 criteria provided, single submitter clinical testing The c.856dupG variant in the DFNB31 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.856dupG variant causes a frameshift starting with codon Aspartic Acid 286, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Asp286GlyfsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.856dupG variant was not observed in approximately 6500 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.856dupG variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Invitae RCV000480201 SCV001393047 pathogenic not provided 2019-08-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp286Glyfs*14) in the WHRN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WHRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 420550). Loss-of-function variants in WHRN are known to be pathogenic (PMID: 12833159, 15841483, 22147658). For these reasons, this variant has been classified as Pathogenic.

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