Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457642 | SCV000553881 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2016-05-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in SDHA are known to be pathogenic (PMID: 24781757, 22974104). This sequence change inserts 1 nucleotide in exon 12 of the SDHA mRNA (c.1615dupA), causing a frameshift at codon 539. This creates a premature translational stop signal (p.Ile539Asnfs*64) and is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003456080 | SCV004189811 | pathogenic | Paragangliomas 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Baylor Genetics | RCV003476128 | SCV004202922 | likely pathogenic | Dilated cardiomyopathy 1GG | 2021-10-27 | criteria provided, single submitter | clinical testing |