ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.525del (p.Arg174_Tyr175insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Centre, Carl Von Ossietzky University Oldenburg RCV003445439 SCV004174181 likely pathogenic Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2023-08-25 no assertion criteria provided clinical testing The variant MEIS2:c.525del, p.(Tyr175Ter), which is located in the coding exon 6 of the MEIS2 gene, results from a deletion of a cytosine at nucleotide position 525. The tyrosine at protein position 175 is replaced by a premature stop codon that is predicted to cause non-sense mediated decay. This variant is classified as very rare in the overall population (no carriers reported in gnomAD, gnomAD V3.1.2 ). It was also found in the affected mother of the patient. The variant is classified as Likely pathogenic.

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