ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.720_723del (p.Glu241fs)

dbSNP: rs746973761
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000331047 SCV000335491 likely pathogenic not provided 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000778864 SCV001420887 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2025-01-28 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TMEM70 gene (p.Glu241Asnfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acid(s) of the TMEM70 protein and extend the protein by 3 additional amino acid residues. This variant is present in population databases (rs746973761, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TMEM70-related conditions. ClinVar contains an entry for this variant (Variation ID: 283424). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000331047 SCV005628356 uncertain significance not provided 2024-07-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 20 amino acids are replaced with 23 different amino acids; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)
Fulgent Genetics, Fulgent Genetics RCV000778864 SCV005679112 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2024-06-21 criteria provided, single submitter clinical testing

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