Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV002496863 | SCV002809768 | pathogenic | Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D | 2021-10-01 | criteria provided, single submitter | clinical testing |