ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.1639C>T (p.Arg547Cys) (rs371344688)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797003 SCV000936540 uncertain significance Hereditary insensitivity to pain with anhidrosis 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 577 of the NTRK1 protein (p.Arg577Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs371344688, ExAC 0.006%). This variant has not been reported in the literature in individuals with NTRK1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Athena Diagnostics Inc RCV000992455 SCV001144785 uncertain significance not provided 2018-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002592 SCV001160565 uncertain significance not specified 2019-05-20 criteria provided, single submitter clinical testing The NTRK1 c.1729C>T; p.Arg577Cys variant (rs371344688), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an allele frequency of 0.007% (9/128348 alleles) in the Genome Aggregation Database. The arginine at codon 577 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Arg577Cys variant is uncertain at this time.
Mayo Clinic Laboratories, Mayo Clinic RCV000992455 SCV001713863 uncertain significance not provided 2020-01-23 criteria provided, single submitter clinical testing

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