ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.392G>A (p.Arg131His) (rs150271893)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431011 SCV000513995 uncertain significance not provided 2016-07-07 criteria provided, single submitter clinical testing The R161H variant has not been previously published in association with neuropathy to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. However, the R161H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species, and Histidine is observed at this position in evolution. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Invitae RCV000547738 SCV000626972 likely benign Hereditary insensitivity to pain with anhidrosis 2020-11-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000547738 SCV001252344 uncertain significance Hereditary insensitivity to pain with anhidrosis 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000431011 SCV001715578 uncertain significance not provided 2020-05-28 criteria provided, single submitter clinical testing

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