ClinVar Miner

Submissions for variant NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)

dbSNP: rs2069052012
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Total submissions: 3
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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 RCV001261415 SCV001337684 pathogenic Heart, malformation of; Atypical behavior; Abnormal facial shape; Specific learning disability; Macrocephaly 2020-04-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002555438 SCV002961454 pathogenic not provided 2021-12-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 917744). This missense change has been observed in individual(s) with a neurodevelopmental condition (PMID: 32721402; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 174 of the MAPK1 protein (p.Ala174Val).
OMIM RCV001264763 SCV001443066 pathogenic Noonan syndrome 13 2020-11-09 no assertion criteria provided literature only

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