ClinVar Miner

Submissions for variant NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)

dbSNP: rs886041091
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000577864 SCV000328689 pathogenic Developmental and epileptic encephalopathy, 58 2017-11-02 criteria provided, single submitter research
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782078 SCV000920549 pathogenic not provided 2019-01-15 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000577864 SCV001142594 likely pathogenic Developmental and epileptic encephalopathy, 58 2018-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001265761 SCV001443930 likely pathogenic Inborn genetic diseases 2017-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000782078 SCV001500544 pathogenic not provided 2020-08-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000782078 SCV001762223 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000782078 SCV001790578 pathogenic not provided 2022-10-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34889524, 29100083, 29652076, 31070779, 34426522, 33816068)
Labcorp Genetics (formerly Invitae), Labcorp RCV000782078 SCV002234206 pathogenic not provided 2024-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 434 of the NTRK2 protein (p.Tyr434Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with NTRK2-related conditions (PMID: 29100083). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 268204). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt NTRK2 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000577864 SCV000679672 pathogenic Developmental and epileptic encephalopathy, 58 2020-11-09 no assertion criteria provided literature only

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