ClinVar Miner

Submissions for variant NM_006013.5(RPL10):c.232A>G (p.Lys78Glu)

dbSNP: rs1131692040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575333 SCV001802301 pathogenic not provided 2019-08-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Published functional studies using zebrafish models suggest a damaging effect where RPL10 suppression decreased head size which could be rescued by wildtype or other missense RPL10 but not by K78E (Brooks et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25316788, 30144322, 29066376)
OMIM RCV000494720 SCV000583472 pathogenic Intellectual disability, X-linked, syndromic, 35 2024-04-01 no assertion criteria provided literature only
Care4Rare-SOLVE, CHEO RCV000494720 SCV000679686 uncertain significance Intellectual disability, X-linked, syndromic, 35 2017-08-10 no assertion criteria provided research

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