ClinVar Miner

Submissions for variant NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763977 SCV000894928 uncertain significance Noonan syndrome 1; Cardiofaciocutaneous syndrome 3 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000705987 SCV000835014 uncertain significance Rasopathy 2018-04-13 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 321 of the MAP2K1 protein (p.Pro321Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs771613524, ExAC 0.02%). This variant has not been reported in the literature in individuals with MAP2K1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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