ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.875C>T (p.Thr292Ile)

gnomAD frequency: 0.00003  dbSNP: rs397516794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000596132 SCV000709720 uncertain significance not specified 2018-03-06 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: GnomAD 15:66777509 C / T low quality site, 1/14972 European chrs; Not in ClinVar, Google search or HGMD; predicted benign, not conserved
Labcorp Genetics (formerly Invitae), Labcorp RCV002531114 SCV003298814 uncertain significance RASopathy 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 292 of the MAP2K1 protein (p.Thr292Ile). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MAP2K1-related conditions. ClinVar contains an entry for this variant (Variation ID: 503539). 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 MAP2K1 protein function. 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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