ClinVar Miner

Submissions for variant NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu)

gnomAD frequency: 0.00001  dbSNP: rs867410737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000541368 SCV000622157 pathogenic Decreased activity of mitochondrial ATP synthase complex 2017-06-01 no assertion criteria provided clinical testing Pathogenicity of this variant was established through patient-specific functional assays including untargeted serum metabolomics, western blot, Blue Native PAGE, Seahorse energetics, and electron microscopy of iPSC-derived cardiomyocytes which were all consistent with impaired ATPase function. Additional evidence for gene- and variant-specific pathogenicity included in vivo transgenic Drosophila studies with attempted rescue. This individual has been reported in PMID:29478781 (subject 1).
OMIM RCV000680226 SCV000807680 pathogenic Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 2018-09-14 no assertion criteria provided literature only

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