ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)

dbSNP: rs749803238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Core Molecular Diagnostic Lab, McGill University Health Centre RCV000755051 SCV000882825 pathogenic Ethylmalonic encephalopathy 2019-02-12 criteria provided, single submitter clinical testing
GeneDx RCV001557377 SCV001779130 likely pathogenic not provided 2017-06-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; This variant is associated with the following publications: (PMID: 30349987, 19289697)
Baylor Genetics RCV000755051 SCV004192688 likely pathogenic Ethylmalonic encephalopathy 2023-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000755051 SCV002088909 likely pathogenic Ethylmalonic encephalopathy 2020-09-03 no assertion criteria provided clinical testing

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