Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001332181 | SCV001524417 | pathogenic | Intellectual disability, autosomal recessive 5 | 2020-04-20 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Fulgent Genetics, |
RCV001332181 | SCV002777395 | likely pathogenic | Intellectual disability, autosomal recessive 5 | 2022-01-13 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003331119 | SCV004038826 | pathogenic | Autosomal recessive non-syndromic intellectual disability | 2023-08-22 | criteria provided, single submitter | clinical testing | Variant summary: NSUN2 c.1165C>T (p.Arg389X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 251490 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1165C>T in individuals affected with Mental Retardation, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters have assessed the variant since 2014: one classified the variant as likely pathoegnic, and one as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV003770842 | SCV004644545 | pathogenic | not provided | 2023-01-26 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg389*) in the NSUN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NSUN2 are known to be pathogenic (PMID: 22541559, 22577224). This variant has not been reported in the literature in individuals affected with NSUN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030591). For these reasons, this variant has been classified as Pathogenic. |
| Daryl Scott Lab, |
RCV001332181 | SCV005871293 | pathogenic | Intellectual disability, autosomal recessive 5 | 2024-01-01 | criteria provided, single submitter | clinical testing | PVS1, PM2 |