ClinVar Miner

Submissions for variant NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)

dbSNP: rs1380822792
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000515798 SCV000803186 pathogenic Intellectual disability, autosomal dominant 50 2018-06-26 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000793395 SCV000932744 pathogenic not provided 2019-03-11 criteria provided, single submitter clinical testing Loss-of-function variants in NAA15 are known to be pathogenic (PMID: 28191889, 29656860). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual affected with autism spectrum disorder (PMID: 28191889). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp76Glufs*20) in the NAA15 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV000793395 SCV001983272 pathogenic not provided 2023-11-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28191889, 33004838, 35710456, 29656860)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000515798 SCV002568192 pathogenic Intellectual disability, autosomal dominant 50 2022-06-08 criteria provided, single submitter clinical testing PVS1, PS2, PM2
OMIM RCV000515798 SCV000611895 pathogenic Intellectual disability, autosomal dominant 50 2021-07-07 no assertion criteria provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000793395 SCV002522461 likely pathogenic not provided no assertion criteria provided clinical testing
Solve-RD Consortium RCV000515798 SCV005200055 likely pathogenic Intellectual disability, autosomal dominant 50 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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