ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.105dup (p.Val36fs)

gnomAD frequency: 0.00001  dbSNP: rs1411381518
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995903 SCV001150295 likely pathogenic Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2018-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000995903 SCV005088891 pathogenic Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2021-03-30 criteria provided, single submitter clinical testing This variant (reported as c.105dupT; p.V36fs*52) was previously reported in two siblings diagnosed with TMEM70 deficiency in a family in homozygous state [PMID: 30950220]. In addition, other truncating variants lying downstream of the identified variant, have been previously reported as ‘pathogenic’ in the ClinVar database context of nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2.
OMIM RCV000995903 SCV001428444 pathogenic Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2020-08-13 no assertion criteria provided literature only

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