Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV002289321 | SCV002580062 | pathogenic | Paragangliomas 5 | 2022-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003097776 | SCV003459951 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2021-12-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of paraganglioma-pheochromocytoma syndromes (PMID: 28384794). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln428Profs*37) 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). |
Myriad Genetics, |
RCV002289321 | SCV003836635 | 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. |
Ambry Genetics | RCV003340474 | SCV004059193 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-09-05 | criteria provided, single submitter | clinical testing | The c.1283_1298del16 pathogenic mutation, located in coding exon 10 of the SDHA gene, results from a deletion of 16 nucleotides at nucleotide positions 1283 to 1298, causing a translational frameshift with a predicted alternate stop codon (p.Q428Pfs*37). This variant has been reported in a male diagnosed with bilateral pheochromocytomas (Bausch B et al. JAMA Oncol, 2017 Sep;3:1204-1212; Maniam P et al. J Endocr Soc, 2018 Jul;2:806-816). 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. |
Baylor Genetics | RCV003475330 | SCV004200654 | pathogenic | Dilated cardiomyopathy 1GG | 2023-05-03 | criteria provided, single submitter | clinical testing |