ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.500T>C (p.Val167Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002651052 SCV003514530 uncertain significance RASopathy 2023-08-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2196325). This variant has not been reported in the literature in individuals affected with PTPN11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 167 of the PTPN11 protein (p.Val167Ala). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PTPN11 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Laboratory Services, Illumina RCV003985114 SCV004801464 uncertain significance Noonan syndrome 1 2020-09-16 criteria provided, single submitter clinical testing The PTPN11 c.500T>C p.(Val167Ala) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is reported in the Genome Aggregation Database in one allele at a frequency of 0.000029 in the Admixed American population (version 2.1.1). Based on the limited evidence the c.500T>C p.(Val167Ala) variant is classified as a variant of uncertain significance for Noonan syndrome.

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