Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV001009623 | SCV001161672 | pathogenic | Autosomal recessive spinocerebellar ataxia 13 | 2020-01-28 | criteria provided, single submitter | clinical testing | A homozygous single base pair duplication in exon 2 of the GRM1 gene that results in the frameshift and premature truncation of the protein 78 amino acids downstream to codon 11 was detected. The observed variant c.26dup (p.Ala11SerfsTer78) has not been reported in the 1000 Genomes and has a minor allele frequency of 0.002% in the ExAC database. The in silico prediction of the variant is damaging by MutationTaster2. The reference region is conserved across primates. In summary, the variant meets our criteria to be classified as pathogenic. |