Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001569762 | SCV001793905 | pathogenic | not provided | 2022-02-09 | 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; This variant is associated with the following publications: (PMID: 33098347) |
| Labcorp Genetics |
RCV001569762 | SCV002230611 | pathogenic | not provided | 2022-10-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg79*) in the SKIV2L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SKIV2L are known to be pathogenic (PMID: 22444670). This variant is present in population databases (rs759511516, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SKIV2L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033166). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003155397 | SCV003844318 | likely pathogenic | Trichohepatoenteric syndrome | 2023-02-28 | criteria provided, single submitter | clinical testing | Variant summary: SKIV2L c.235C>T (p.Arg79X) 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 4.5e-05 in 246534 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in SKIV2L causing Trichohepatoenteric Syndrome (4.5e-05 vs 0.00062), allowing no conclusion about variant significance. c.235C>T has been reported in the literature in at least one homozygous individual affected with Trichohepatoenteric Syndrome (Dyment_2021). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters have assessed the variant since 2014: both classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| University of Washington Center for Mendelian Genomics, |
RCV001543362 | SCV001761920 | likely pathogenic | Trichohepatoenteric syndrome 2 | no assertion criteria provided | research |