ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu)

dbSNP: rs1555504721
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000676419 SCV000860437 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000676419 SCV001871104 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000676419 SCV002217489 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 88 of the EARS2 protein (p.Ala88Glu). This variant is present in population databases (no rsID available, gnomAD 11%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with EARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 559205). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
CeGaT Center for Human Genetics Tuebingen RCV000676419 SCV004141316 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676419 SCV000802197 benign not provided 2016-03-11 no assertion criteria provided clinical testing

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