Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000697696 | SCV000826322 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2022-09-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 575469). This premature translational stop signal has been observed in individual(s) with hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 30201732). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro332Argfs*8) in the SDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHA are known to be pathogenic (PMID: 22974104, 24781757). |
| Ambry Genetics | RCV002386222 | SCV002690108 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-08-23 | criteria provided, single submitter | clinical testing | The c.995_996delCT pathogenic mutation, located in coding exon 8 of the SDHA gene, results from a deletion of two nucleotides at nucleotide positions 995 to 996, causing a translational frameshift with a predicted alternate stop codon (p.P332Rfs*8). This alteration was identified in an individual diagnosed with a pheochromocytoma and/or paraganglioma (Benn DE et al. J Med Genet, 2018 11;55:729-734). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003148832 | SCV003836632 | pathogenic | Paragangliomas 5 | 2023-01-12 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Gene |
RCV003313134 | SCV004012475 | pathogenic | not provided | 2023-07-06 | criteria provided, single submitter | clinical testing | Frameshift 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); This variant is associated with the following publications: (PMID: 27535533, 30201732) |
| Baylor Genetics | RCV004569343 | SCV005055637 | pathogenic | Dilated cardiomyopathy 1GG | 2024-01-08 | criteria provided, single submitter | clinical testing |