ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe)

gnomAD frequency: 0.00001  dbSNP: rs371140798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813669 SCV002060800 uncertain significance Noonan syndrome and Noonan-related syndrome 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV003539412 SCV004292330 uncertain significance RASopathy 2023-08-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 377 of the MAP2K1 protein (p.Ser377Phe). 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. 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. ClinVar contains an entry for this variant (Variation ID: 1334254). This variant has not been reported in the literature in individuals affected with MAP2K1-related conditions. This variant is present in population databases (rs371140798, gnomAD 0.002%).

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