ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.22del (p.Val8fs)

dbSNP: rs730880519
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158044 SCV000207979 uncertain significance RASopathy 2012-04-02 criteria provided, single submitter clinical testing This variant is denoted c.22delG at the cDNA level or at the protein level as p.Val8CysfsX95. The normal sequence with the base that is deleted in braces is: GCCG{G}TGCT. The c.22delG single nucleotide deletion has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.22delG mutation in the MAP2K2 gene causes a frameshift starting with codon Valine 8, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 95 of the new reading frame, denoted p.Val8CysfsX95. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In MAP2K2, no truncating or other loss-of function mutations have been reported so far in association with a Noonan spectrum disorder. Therefore, the c.22delG variant is considered to be a variant of unknown clinical significance. The variant is found in NOONAN panel(s).

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