Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469977 | SCV002766031 | likely pathogenic | Sialidosis | 2022-11-02 | criteria provided, single submitter | clinical testing | Variant summary: NEU1 c.163C>T (p.Gln55X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.2e-05 in 246068 control chromosomes (gnomAD). c.163C>T has been reported in the literature in the compound heterozygous state in an individual affected with Sialidosis, type I (e.g. Huang_2008). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV003561054 | SCV004293268 | pathogenic | not provided | 2022-11-29 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs768958770, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln55*) in the NEU1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEU1 are known to be pathogenic (PMID: 11063730, 14517945). This premature translational stop signal has been observed in individual(s) with sialidosis (PMID: 18343720). For these reasons, this variant has been classified as Pathogenic. |