ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr)

dbSNP: rs1064794656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484397 SCV000569662 pathogenic not provided 2020-07-08 criteria provided, single submitter clinical testing Published functional studies demonstrate a dominant-negative effect (Whitley et al., 2018); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30085106)
Mendelics RCV002248701 SCV002519577 pathogenic Optic atrophy 5 2022-05-04 criteria provided, single submitter clinical testing

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