Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Foundation for Research in Genetics and Endocrinology, |
RCV000786024 | SCV000924631 | pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 2019-06-20 | criteria provided, single submitter | clinical testing | Homozugous variant in exon 7 of the APTX gene(chr9:g.32974554delA:depth 34x) that result in a frameshift and premature truncation of the protein 5 amino acid downstream codon 259 was detected. Baby Shaurya born of a non consanguineous marriage, presented with clinical indications of cerebellar ataxia, dyskinessia, imbalance while walking, extrapyramidal signs and abnormal limb movement. He is suspected to be affected with spinocerebellar disorders and has been evaluated for pathogenic gene variant. The p.Val259AspfsTer5 variant has not been reported in the 1000 Genomes and ExAC databases and has a minor allele frequency of 0.007% in our internal database. The in silico prediction of the variant is damaging by MutationTaster2. The reference region is conserved across mammals. |
| Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000786024 | SCV002820178 | pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | criteria provided, single submitter | clinical testing | This variant causes a frameshift starting with codon Valine 259, changes this amino acid to Aspartic Acid residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Val259AspfsTer5. This variant has been reported as pathogenic to the ClinVar database. The p.Val259AspfsTer5 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes and has a minor allele frequency of 0.007%. The in silico prediction of the variant is damaging by MutationTaster2. The reference region is conserved across mammals. For these reasons, this variant has been classified as Pathogenic |