ClinVar Miner

Submissions for variant NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)

dbSNP: rs2068716940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001261416 SCV001337685 pathogenic Heart, malformation of; Atypical behavior; Abnormal facial shape; Specific learning disability; Intellectual disability 2020-04-01 criteria provided, single submitter research
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697049 SCV005198717 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
GeneDx RCV004697049 SCV005326747 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging gain of function effect (PMID: 32721402); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32721402, 37463579)
OMIM RCV001264764 SCV001443067 pathogenic Noonan syndrome 13 2020-11-09 no assertion criteria provided literature only

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