ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.2260G>A (p.Val754Ile) (rs55948542)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000792 SCV001157851 uncertain significance not specified 2019-05-02 criteria provided, single submitter clinical testing The NTRK1 c.2350G>A p.Val784Ile variant (rs55948542), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an allele frequency in non-Finnish European populations of 0.003% (3/107,766 alleles) in the Genome Aggregation Database. The valine at codon 784 is moderately conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, based on the available information, the clinical significance of this variant is uncertain.
Invitae RCV001057914 SCV001222440 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 784 of the NTRK1 protein (p.Val784Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs55948542, ExAC 0.002%). This variant has not been reported in the literature in individuals with NTRK1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Natera, Inc. RCV001057914 SCV001456807 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-09-16 no assertion criteria provided clinical testing

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