Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kasturba Medical College, |
RCV000721142 | SCV003837555 | pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | criteria provided, single submitter | clinical testing | ||
Neuberg Centre For Genomic Medicine, |
RCV000721142 | SCV004047782 | pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | criteria provided, single submitter | clinical testing | The frame shift (c.414_418del) variant has been reported previously in patients affected with Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (Ghosh et. al., 2018). The p.Ala139GlyfsTer4 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic. This variant causes a frameshift starting with codon Alanine 139, changes this amino acid to Glycine residue, and creates a premature stop codon at position 4 of the new reading frame, denoted p.Ala139GlyfsTer4. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. | |
OMIM | RCV000721142 | SCV000852025 | pathogenic | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2018-11-08 | no assertion criteria provided | literature only | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV002251751 | SCV002522453 | pathogenic | not provided | no assertion criteria provided | clinical testing |