ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.71del (p.Pro24fs)

dbSNP: rs730880525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158050 SCV000207985 uncertain significance RASopathy 2013-08-07 criteria provided, single submitter clinical testing This variant is denoted c.71delC at the cDNA level or at the protein level as p.Pro24LeufsX79. The normal sequence with the base that is deleted in braces is: TCCC{delC}TACC. The c.71delC single nucleotide deletion has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.71delC mutation in the MAP2K2 gene causes a frameshift starting with codon Proline 24, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 79 of the new reading frame, denoted p.Pro24LeufsX79. 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. This variant has been observed to be paternally inherited. The variant is found in NOONAN panel(s).

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