Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV001260986 | SCV001438028 | likely pathogenic | MASA syndrome | 2020-10-09 | criteria provided, single submitter | clinical testing | The detected change has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or the literature. It affects a very conserved amino acid (Ensembl) and is classified bioinformatically as a disease-causing agent (SIFT, mutation button). Another amino acid exchange at the same position has already been described in the literature in connection with a hydrocephalus (Finckh et al., 2000). |