ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.454C>T (p.Gln152Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785004 SCV005397383 pathogenic Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2021-06-11 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (C>T) that results in the generation of an early termition codon at position 152 of the MEIS2 protein. This variant is predicted to generate a non-functiol allele through the expression of a truncated protein or a loss of MEIS2 expression due to nonsense mediated decay. This is a de novo variant that has not been previously reported in individuals with MEIS2-related disease, in control population datasets (gnomAD database 0/~250,000 alleles), or in clinical variant repositories (ClinVar), to our knowledge. Because truncating variants are a known mechanism of disease for MEIS2 (PMID: 27225850), we consider this variant to be pathogenic. ACMG Criteria: PM2, PS2, PVS1

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