ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) (rs397507509)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000049228 SCV000077242 pathogenic not provided 2017-01-26 criteria provided, single submitter clinical testing The G60V missense change has not been published as a mutation, nor has it been reported as benign polymorphism. G60V is a semi-conservative amino acid change that occurs in the NSH2 domain of the gene. Three other missense mutations affecting the same codon (G60A, G60C and G60S) have been reported in patients with Noonan syndrome (Tartaglia et al., 2002, Jongmans et al., 2011, Limal et al., 2006 and Ezquieta et al., 2012).
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414941 SCV001370261 pathogenic Noonan syndrome 1 2019-05-27 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PS1,PS2,PM1,PP3.
Baylor Genetics RCV000414941 SCV000328729 likely pathogenic Noonan syndrome 1 2014-04-09 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in PTPN11 (NM_002834.3, c.179G>T) and SHH (NM_000193.2, c.1284delC) in one individual with reported features of global developmental delay, hearing loss, hypotonia, hypertonia/spasticity, possible seizures, dysmorphic features (low frontal hairline, frontal bossing, deep set eye, downslanting palpebral fissures, broad based nose, upturned nasal tip), short 5th fingers, macrocephaly, structural brain abnormalities (agenesis of corpus callosum, large post interhemispheric cyst), possible cortical vision impairment, and an atrial septal defect.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.