Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000413095 | SCV000337003 | pathogenic | not provided | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000413095 | SCV000491380 | likely pathogenic | not provided | 2023-02-04 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 25411445, 24932569, 24456803) |
Invitae | RCV001385286 | SCV001585082 | pathogenic | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser250*) in the WWOX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WWOX are known to be pathogenic (PMID: 24456803, 25411445). This variant is present in population databases (rs368928190, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with WWOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 284393). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002518924 | SCV003737349 | pathogenic | Inborn genetic diseases | 2021-01-13 | criteria provided, single submitter | clinical testing | The c.749C>G (p.S250*) alteration, located in exon 7 (coding exon 7) of the WWOX gene, consists of a C to G substitution at nucleotide position 749. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic. |