ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.116C>T (p.Pro39Leu)

dbSNP: rs1557107942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990995 SCV001142075 likely pathogenic Ogden syndrome 2019-05-28 criteria provided, single submitter clinical testing
3billion RCV000990995 SCV002572715 likely pathogenic Ogden syndrome 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.70; 3Cnet: 0.96). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with NAA10-related disorder (ClinVar ID: VCV000804122). A different missense change at the same codon (p.Pro39Thr) has been reported to be associated with NAA10-related disorder (ClinVar ID: VCV000637034). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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