Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001039257 | SCV001202780 | likely pathogenic | Neuronal ceroid lipofuscinosis | 2023-03-10 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CLN5 protein function. ClinVar contains an entry for this variant (Variation ID: 2569). This missense change has been observed in individuals with neuronal ceroid lipofuscinosis (PMID: 19383612, 20157158). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 126 of the CLN5 protein (p.Cys126Tyr). |
| OMIM | RCV000002678 | SCV000022836 | pathogenic | Neuronal ceroid lipofuscinosis 5 | 2010-02-16 | no assertion criteria provided | literature only |