ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.992_994GAA[2] (p.Arg333del) (rs879255264)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494204 SCV000582364 pathogenic not provided 2015-08-26 criteria provided, single submitter clinical testing The c.998_1000delGAA deletion in the MEIS2 gene has been reported previously as a de novo sequence change in an individual with multiple congenital anomalies including congenital heart defect and cleft palate, intellectual disability, autism spectrum disorder, dysmorphic features and feeding issues (Louw et al., 2015). The c.998_1000delGAA variant results in deletion of the GAA nucleotides, maintaining the reading frame and leading to an Arginine residue being deleted at position 333. The c.998_1000delGAA deletion was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.998_1000delGAA as a pathogenic variant.
GenomeConnect, ClinGen RCV000509419 SCV000606929 not provided MEIS2-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000210625 SCV000266813 pathogenic Cleft palate, cardiac defects, and mental retardation 2019-08-26 no assertion criteria provided literature only

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