ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)

gnomAD frequency: 0.00007  dbSNP: rs749912939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cirak Lab, University Hospital Cologne RCV000855494 SCV000996624 likely pathogenic Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 2019-06-28 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001310323 SCV001500064 likely pathogenic not provided 2021-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001310323 SCV003805563 likely pathogenic not provided 2023-02-19 criteria provided, single submitter clinical testing Observed with an additional EARS2 variant, phase unknown, in a patient with fetal akinesia as well as microcephaly, porencephaly and lissencephaly in published literature (Pergande et al., 2019); Not observed at a significant frequency in large population cohorts (gnomAD); 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: 25058219, 31680123)

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