ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1742A>C (p.Glu581Ala)

dbSNP: rs2135930864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252936 SCV002522937 uncertain significance See cases 2021-12-03 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003655350 SCV004402006 uncertain significance RASopathy 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 581 of the PTPN11 protein (p.Glu581Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PTPN11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1690518). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Fulgent Genetics, Fulgent Genetics RCV005008489 SCV005632309 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2024-05-21 criteria provided, single submitter clinical testing

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