ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)

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Total submissions: 5
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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, Inc. 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

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