ClinVar Miner

Submissions for variant NM_057175.5(NAA15):c.779del (p.Tyr260fs)

dbSNP: rs2110930242
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272792 SCV002557008 likely pathogenic Intellectual disability, autosomal dominant 50 2021-02-02 criteria provided, single submitter clinical testing The NAA15 c.779delA variant is classified as LIKELY PATHOGENIC (PM2, PVS1) This NAA15 c.779delA variant is located in exon 7 and is predicted to cause a shift in the reading frame at codon 260 (PVS1). This variant has not been reported in dbSNP and is absent from population databases (PM2). It has not been reported in the ClinVar or HGMD disease databases. The majority of damaging variants reported in NAA15 are nonsense or frameshift variants and have been found to occur de novo in affected individuals.

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