ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.1553G>A (p.Arg518Gln) (rs764417252)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221544 SCV000279949 uncertain significance not provided 2017-03-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NTRK1 gene. The R548Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R548Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R548Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in Human Gene Mutation Database in association with NTRK1-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Mendelics RCV000708820 SCV000837806 uncertain significance Familial medullary thyroid carcinoma 2018-07-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276831 SCV001463403 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-04-17 no assertion criteria provided clinical testing

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