Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000255224 | SCV000321504 | pathogenic | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in an individual with an abnormality of the nervous system, however no further information was provided (Retterer et al., 2016); This variant is associated with the following publications: (PMID: 23169490, 31964843, 26633542) |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003235165 | SCV003934723 | uncertain significance | not specified | 2023-05-01 | criteria provided, single submitter | clinical testing | Variant summary: CC2D2A c.4533G>C (p.Trp1511Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.2e-06 in 240710 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4533G>C has been reported in the literature in an individual affected with Abnormality of the Nervous System (Retterer_2016). This report does not provide unequivocal conclusions about association of the variant with Meckel Syndrome Type 6. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 26633542). One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance. |