Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV003334461 | SCV004042825 | likely pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2023-10-06 | criteria provided, single submitter | clinical testing | The c.166C>T variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been reported in the literature in individuals with ADPRS-related conditions nor reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM in any affected individuals. In-silico pathogenicity programs like MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious however these predictions were not confirmed by published functional studies. This variant creates a premature translational stop signal at the 56th amino acid position of the transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA. |