ClinVar Miner

Submissions for variant NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr)

gnomAD frequency: 0.00002  dbSNP: rs201897431
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266153 SCV001444325 uncertain significance Inborn genetic diseases 2017-07-05 criteria provided, single submitter clinical testing
GeneDx RCV002469365 SCV002765668 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has been reported in a patient with neuroregression, leukoencephalopathy, and seizures (Bindu et al., 2018a, Bindu et al. 2018b; Sankaran et al., 2020); This variant is associated with the following publications: (PMID: 29272804, 31180159, 32180488, 29353736)
Genome-Nilou Lab RCV003346418 SCV004048816 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 6 2023-04-11 criteria provided, single submitter clinical testing
Invitae RCV002469365 SCV004325417 likely benign not provided 2023-04-14 criteria provided, single submitter clinical testing

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