Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000018094 | SCV001142168 | uncertain significance | Spinocerebellar ataxia type 23 | 2023-09-29 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268483 | SCV001447446 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001268483 | SCV002064033 | likely pathogenic | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001268483 | SCV002584237 | uncertain significance | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 21035104) |
Labcorp Genetics |
RCV001268483 | SCV003262120 | pathogenic | not provided | 2024-04-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 138 of the PDYN protein (p.Arg138Ser). This variant is present in population databases (rs267606941, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of spinocerebellar ataxia (PMID: 21035104, 22287014, 23355175). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 18458). 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 not expected to disrupt PDYN protein function with a negative predictive value of 80%. Studies have shown that this missense change alters PDYN gene expression (PMID: 21035104). For these reasons, this variant has been classified as Pathogenic. |
Human Genetics Bochum, |
RCV000018094 | SCV004042773 | likely pathogenic | Spinocerebellar ataxia type 23 | 2023-05-23 | criteria provided, single submitter | clinical testing | ACMG criteria used to clasify this variant: PS4, PS3_MOD, PP1 |
OMIM | RCV000018094 | SCV000038373 | pathogenic | Spinocerebellar ataxia type 23 | 2010-11-12 | no assertion criteria provided | literature only |