Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001783995 | SCV002556189 | likely pathogenic | Intellectual disability, autosomal recessive 7 | 2022-06-02 | criteria provided, single submitter | clinical testing | Variant summary: TUSC3 c.220C>T (p.Arg74X) 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 reported in HGMD in association with Intellectual disability. The variant allele was found at a frequency of 1.2e-05 in 251288 control chromosomes. To our knowledge, no occurrence of c.220C>T in individuals affected with Intellectual Disability, Autosomal Recessive 7 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Gene |
RCV003442905 | SCV004167687 | likely pathogenic | not provided | 2023-10-15 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |