ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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).

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