ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.1129A>C (p.Met377Leu)

gnomAD frequency: 0.00004  dbSNP: rs534636474
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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 RCV001059164 SCV001223776 uncertain significance Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2021-09-08 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 370 of the MEIS2 protein (p.Met370Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine. This variant is present in population databases (rs534636474, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with MEIS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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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