Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733637 | SCV000861726 | uncertain significance | not provided | 2018-06-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000801185 | SCV000940951 | likely benign | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | 2023-10-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332532 | SCV002618519 | likely benign | Inborn genetic diseases | 2021-03-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003420311 | SCV004118523 | uncertain significance | VCP-related condition | 2022-12-13 | criteria provided, single submitter | clinical testing | The VCP c.340A>G variant is predicted to result in the amino acid substitution p.Ile114Val. This variant was reported in a few individuals with amyotrophic lateral sclerosis (Koppers et al 2012. PubMed ID: 22078486; Morgan S et al 2017. PubMed ID: 28430856; Mehta PR et al 2018. PubMed ID: 30270202). This variant is reported in 0.015% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-35066777-T-C). This variant has also been reported as uncertain and likely benign by other labs in ClinVar. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |