ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.313C>T (p.Arg105Ter)

dbSNP: rs148538980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325511 SCV001516504 pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 631526). This variant has not been reported in the literature in individuals affected with EMC1-related conditions. This variant is present in population databases (rs148538980, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg105*) in the EMC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EMC1 are known to be pathogenic (PMID: 26572623, 26942288, 29271071).
Dash Lab, University Health Network RCV000787969 SCV000914240 likely pathogenic Obesity 2017-07-01 no assertion criteria provided research

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