Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Diagnostics Services |
RCV001030432 | SCV001189949 | pathogenic | Chorea-acanthocytosis | 2020-02-26 | criteria provided, single submitter | clinical testing | The c.4918C>T variant is not present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is not present in our in-house exome database. The variant was not reported earlier to OMIM, ClinVar or HGMD databases. In-silico pathogenicity prediction programs MutationTaster2, CADD, Intervar etc. predicted this variant to be likely deleterious. This variant may either cause nonsense mediated decay of the mRNA resulting no protein or a truncated protein due to premature stop codon. The variant has been classified as pathogenic as per ACMG guidelines. |
| Invitae | RCV002552041 | SCV003317582 | pathogenic | not provided | 2022-03-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 830219). This variant has not been reported in the literature in individuals affected with VPS13A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1640*) in the VPS13A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13A are known to be pathogenic (PMID: 12404112, 21598378). |