Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV002284371 | SCV002573592 | likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2021-10-22 | criteria provided, single submitter | clinical testing | A heterozygous missense variation in exon 8 of the DYNC1H1 gene that results in the amino acid substitution of Glutamic acid for Lysine at codon580 was detected. The observed variant c.1738G>A;(p.Glu580Lys) is not been reported in the 1000 genomes and gnomAD databases. The in-silico prediction of the variant is benign by PolyPhen-2 (HumDiv) and damaging by SIFT and LRT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance. |
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, |
RCV000201421 | SCV000239920 | pathogenic | Abnormality of neuronal migration | 2014-10-31 | no assertion criteria provided | clinical testing |