ClinVar Miner

Submissions for variant NM_003491.3(NAA10):c.440T>C (p.Met147Thr) (rs1057518605)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623681 SCV000742498 uncertain significance Inborn genetic diseases 2017-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneDx RCV000414408 SCV000492398 likely pathogenic not provided 2016-12-13 criteria provided, single submitter clinical testing The M147T variant in the NAA10 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 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 M147T 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The M147T variant is a strong candidate for a pathogenic variant.

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