ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1277_1279dup (p.Thr426_Arg427insPro)

gnomAD frequency: 0.00005  dbSNP: rs753414156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cirak Lab, University Hospital Cologne RCV000855495 SCV000996625 likely pathogenic Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 2019-06-28 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002536201 SCV003029923 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing This variant, c.1277_1279dup, results in the insertion of 1 amino acid(s) of the EARS2 protein (p.Thr426_Arg427insPro), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753414156, gnomAD 0.006%). This variant has been observed in individual(s) with clinical features of EARS2-related conditions (PMID: 31680123). ClinVar contains an entry for this variant (Variation ID: 692301). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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