ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.607C>A (p.Leu203Ile)

gnomAD frequency: 0.00002  dbSNP: rs185278462
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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 RCV002011168 SCV002288661 uncertain significance Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2024-03-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 203 of the MEIS2 protein (p.Leu203Ile). This variant is present in population databases (rs185278462, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MEIS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1503126). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MEIS2 protein function with a negative predictive value of 80%. 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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