ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.1147+355G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003815953 SCV004611642 uncertain significance Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2023-07-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MEIS2-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 381 of the MEIS2 protein (p.Met381Ile). This variant is not present in population databases (gnomAD no frequency). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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