ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000128609 SCV000154971 pathogenic N-terminal acetyltransferase deficiency 2016-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000413890 SCV000491192 pathogenic not provided 2016-10-24 criteria provided, single submitter clinical testing The R116W variant in the NAA10 gene has been reported previously in association with N-terminal acetylation deficiency and intellectual disability (Rauch et al., 2012; Saunier et al., 2016). Functional studies show R116W significantly reduces catalytic activity of N-terminal acetylation (Popp et al., 2015). The R116W variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R116W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. Based on currently available evidence, we interpret R116W as a pathogenic variant.
OMIM RCV000128609 SCV000257346 pathogenic N-terminal acetyltransferase deficiency 2015-05-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000128609 SCV000734762 pathogenic N-terminal acetyltransferase deficiency no assertion criteria provided clinical testing

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