ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.134A>G (p.His45Arg)

dbSNP: rs2110895965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665356 SCV001872710 pathogenic not provided 2024-02-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004039558 SCV004960034 uncertain significance Inborn genetic diseases 2024-02-14 criteria provided, single submitter clinical testing The c.134A>G (p.H45R) alteration is located in exon 2 (coding exon 2) of the NAA15 gene. This alteration results from an A to G substitution at nucleotide position 134, causing the histidine (H) at amino acid position 45 to be replaced by an arginine (R). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291001 SCV002583453 likely pathogenic Intellectual disability, autosomal dominant 50 2022-05-02 no assertion criteria provided clinical testing

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