ClinVar Miner

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

dbSNP: rs1064794551
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Total submissions: 3
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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 For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in WHRN are known to be pathogenic (PMID: 12833159, 15841483, 22147658). 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). This variant is not present in population databases (ExAC no frequency). 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.
Fulgent Genetics, Fulgent Genetics RCV002496863 SCV002809768 pathogenic Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D 2021-10-01 criteria provided, single submitter clinical testing

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