ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.4216G>A (p.Glu1406Lys)

gnomAD frequency: 0.00001  dbSNP: rs759810756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001328011 SCV001519344 uncertain significance Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PM1, PM2, PP3 / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging.
GeneDx RCV001539883 SCV001757706 likely pathogenic not provided 2020-07-09 criteria provided, single submitter clinical testing Observed in two unrelated patients with hearing loss in published literature (Rehman et al., 2016; Miyagawa et al., 2013); however, additional information was not provided; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23967202, 27375115)

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