ClinVar Miner

Submissions for variant NM_002529.4(NTRK1):c.1888G>A (p.Val630Met)

gnomAD frequency: 0.00002  dbSNP: rs1405634315
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307105 SCV001496500 uncertain significance Hereditary insensitivity to pain with anhidrosis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 624 of the NTRK1 protein (p.Val624Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NTRK1-related conditions. 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 C0"). 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.
GeneDx RCV001773614 SCV002002964 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001307105 SCV004048755 uncertain significance Hereditary insensitivity to pain with anhidrosis 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001307105 SCV002090064 uncertain significance Hereditary insensitivity to pain with anhidrosis 2020-07-22 no assertion criteria provided clinical testing

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