ClinVar Miner

Submissions for variant NM_001987.5(ETV6):c.605G>A (p.Arg202Gln)

gnomAD frequency: 0.00009  dbSNP: rs200351280
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521755 SCV000620162 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in an individual with pediatric acute lymphoblastic leukemia (Moriyama et al., 2015); This variant is associated with the following publications: (PMID: 26522332)
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001554287 SCV001775536 benign Thrombocytopenia 5 2021-01-06 criteria provided, single submitter clinical testing The ETV6 c.605G>A (p.Arg202Gln) missense change has a maximum subpopulation frequency of 0.082% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/12-12022499-G-A). This population frequency is higher than expected for a pathogenic variant in ETV6 causing thrombocytopenia and predisposition to leukemia (BS1). Six of seven in silico tools predict a benign effect on the gene or protein function (BP4). Furthermore, functional studies indicate that this variant behaves similar to the wild-type (BS3; PMID: 32693409). This variant has been identified in a patient without a personal or family history of thrombocytopenia or acute lymphoblastic leukemia (internal data). It has also been identified in 1 of 4405 pediatric ALL cases and described as a common variant and thus not suspected to be related to disease (PMID: 26522332). In summary, this variant meets criteria to be classified as benign based on the ACMG/AMP criteria: BS1, BS3, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV000521755 SCV003296408 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942714 SCV004763337 likely benign ETV6-related disorder 2024-04-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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