Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000328115 | SCV000401982 | uncertain significance | Spongy degeneration of central nervous system | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000328115 | SCV000794264 | uncertain significance | Spongy degeneration of central nervous system | 2017-10-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000328115 | SCV000896611 | uncertain significance | Spongy degeneration of central nervous system | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000328115 | SCV001414217 | uncertain significance | Spongy degeneration of central nervous system | 2019-11-08 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with threonine at codon 170 of the ASPA protein (p.Ile170Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs144321760, ExAC 0.05%). This variant has been observed in individuals with ASPA-related disease (PMID: 28101991). ClinVar contains an entry for this variant (Variation ID: 322633). This variant has been reported to affect ASPA protein function (PMID: 28101991). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Centre de Biologie Pathologie Génétique, |
RCV001252156 | SCV001427906 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |