ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.1947+1G>A

dbSNP: rs2110977610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001376798 SCV001573969 likely pathogenic not provided 2018-05-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 15 of the NAA15 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NAA15-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NAA15 are known to be pathogenic (PMID: 28191889). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV001376798 SCV004035641 pathogenic not provided 2023-09-16 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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