Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001047447 | SCV001211409 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2023-08-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 844567). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the SDHC protein in which other variant(s) (p.Leu158Pro) have been observed in individuals with SDHC-related conditions (PMID: 12807974). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This sequence change results in a frameshift in the SDHC gene (p.Lys141Asnfs*66). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acid(s) of the SDHC protein and extend the protein by 36 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). |
| Myriad Genetics, |
RCV003455196 | SCV004189822 | likely pathogenic | Paragangliomas 3 | 2023-09-29 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in the incorporation of abnormal amino acid sequence into the protein product and abnormal protein elongation. |