ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.576_578inv (p.Arg192_Asp193delinsSerLeu)

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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 RCV000687546 SCV000815119 uncertain significance Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2019-05-09 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant has not been reported in the literature in individuals with MEIS2-related disease. This variant is not present in population databases (ExAC no frequency). This variant,  c.576_578delinsTCT, results in the deletion of 2 amino acids, and the insertion of 2 amino acids in the MEIS2 protein (p.Arg192_Asp193delinsSerLeu), but otherwise preserves the integrity of the reading frame.
GeneDx RCV003222101 SCV003918662 uncertain significance not provided 2022-10-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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